Gene Summary

Name:
PR domain containing 5
Synonyms:
6530401I24Rik,  4432417F03Rik,  PFM2,  E130112L17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Prdm5em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Prdm5em1(IMPC)Tcp HOM Early adult 0.00
abnormal optic disk morphology Prdm5em1(IMPC)Tcp HOM Early adult 8.41×10-05
abnormal auditory brainstem response Prdm5em1(IMPC)Tcp HOM   Early adult 2.07×10-08
decreased exploration in new environment Prdm5em1(IMPC)Tcp HOM Early adult 6.52×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Histopathology

Images

8 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Gross Pathology and Tissue Collection

Images

11 Images

Eye Morphology

Images Slit Lamp

1 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Prdm5 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.

The table below shows human diseases associated to Prdm5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Increased susceptibility to fractures, Camptodactyly ORPHA:90354
Brittle Cornea Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:614170

The table below shows human diseases predicted to be associated to Prdm5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Osteopenia, Decreased calvarial ossification, Multiple prenatal fractures, J... OMIM:610915
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteoporosis
Osteoporosis OMIM:166710
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Type II diabetes mellitus, Anxiety, Progressive hearing impairm... OMIM:614296
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:1802
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, EEG abnormality, Mental deterioration, Retinal dystrophy OMIM:614706
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Progressive sensorineural hearing impairment OMIM:165199
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure ORPHA:46532
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Emotional lability OMIM:613672
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Psychomotor deterioration, Rod-cone dystrophy OMIM:609055
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Hearing impairment, Peripheral axonal neuropathy OMIM:617087
Caffey Disease
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... OMIM:114000
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... ORPHA:1310
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density ORPHA:970
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Abnormal bone ossification, Epiphyseal stippling ORPHA:1952
Optic Atrophy 2
Optic atrophy OMIM:311050
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Hearing impairment, EEG abnormality, Chorioretinal coloboma ORPHA:2732
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Optic Atrophy 5
Optic atrophy OMIM:610708
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment OMIM:165300
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis ORPHA:1525
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Ceroid Lipofuscinosis, Neuronal, 7
EEG abnormality, Mental deterioration, Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Wolfram-Like Syndrome
Abnormal pinna morphology, Congenital sensorineural hearing impairment, Anxiety, Peripheral axona... ORPHA:411590
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor, Dementia OMIM:182830
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Periventricular Nodular Heterotopia 7
Optic atrophy, Hearing impairment, Cryptorchidism OMIM:617201
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Merrf
Sensorineural hearing impairment, Optic atrophy, Cognitive impairment ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Mental deterioration, Oni... OMIM:609260
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... ORPHA:457205
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment ORPHA:2246
Peripheral Cone Dystrophy
Optic atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Peripheral retinal degeneration OMIM:609021
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Opti... OMIM:618889
Metatropic Dysplasia
Joint stiffness, Coarse metaphyseal trabecularization, Camptodactyly of finger, Abnormal enchondr... ORPHA:2635
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Proteus Syndrome
Facial hyperostosis, Thin bony cortex, Mandibular hyperostosis, Calvarial hyperostosis OMIM:176920
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Retinohepatoendocrinologic Syndrome
Infertility, Maturity-onset diabetes of the young, Cone dystrophy, Hypothyroidism, Optic disc pallor OMIM:268040
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy, Cognitive impairment ORPHA:1171
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 1
EEG abnormality, Retinal degeneration, Macular degeneration, Optic atrophy, Psychomotor deteriora... OMIM:256730
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Anxiety, Peripheral axonal neuropathy, Optic atrophy, Premature ovarian insufficiency OMIM:619425
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy, Cognitive impairment OMIM:615035
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Progressive hearing impairment, Retinal arteriolar constriction, Bilateral sensorine... OMIM:124950
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Periphera... OMIM:617519
Grant Syndrome
Abnormal cortical bone morphology, Joint hyperflexibility, Decreased skull ossification ORPHA:2097
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Anxiety, Optic atrophy, Psychomot... OMIM:204200
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Mental deterioration OMIM:258700
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Emotional lability ORPHA:98890
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cognitive impairment, Sensory axonal neuropathy, Optic atrophy, Adult onset sensorineural hearing... ORPHA:329314
Atypical Pantothenate Kinase-Associated Neurodegeneration
Irritability, Cognitive impairment, Retinopathy, Optic atrophy, Emotional lability, Violent behav... ORPHA:216873
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Hypogonadotropic hypogonadism, Cryptorchidism, Mental deterioration OMIM:619310
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Cognitive impairment OMIM:613909
Gorham-Stout Disease
Osteomyelitis, Abnormal bone ossification, Osteopenia, Osteolysis involving bones of the lower li... ORPHA:73
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Sensorineural hearing impairment, Rod-cone dystrophy, Segmental peripheral demyelination/remyelin... OMIM:311070
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Hearing impairment, Abnormality of the autonomic nervous system ORPHA:1186
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Cognitive impairment ORPHA:276183
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Hearing impairment OMIM:309555
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Hypogonadotropic hypogonadism, Abnorma... ORPHA:1173
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Anxiety, Retinal thinning OMIM:618970
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Hearing impairment, Rod-cone dystrophy OMIM:617717
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Multifocal epileptiform discharges, Hearing impairment, Irritability OMIM:609056
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor, Hypsarrhythmia OMIM:618776
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Usher Syndrome, Type 1M
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen OMIM:618632
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Usher Syndrome, Type Iiib
Optic disc pallor, Hearing impairment OMIM:614504
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy OMIM:616171
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Cognitive impairment OMIM:258501
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Hyperinsulinemia, Type II diabet... ORPHA:791
Optic Atrophy 6
Optic atrophy OMIM:258500
Hemimegalencephaly
EEG with focal spikes, EEG with polyspike wave complexes, EEG with burst suppression, Optic atrop... ORPHA:99802
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Thin bony cortex, Joint laxity, Joint hypermobility, Generalized osteoporosis OMIM:617952
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:600081
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impairment, Aganglio... OMIM:600501
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Progressive he... ORPHA:97229
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Papilledema, Elevated circulating parathyroid hormone level, Optic atrophy, Hear... OMIM:122860
Leukoencephalopathy With Vanishing White Matter
Emotional lability, Primary amenorrhea, Memory impairment, Optic atrophy, Secondary amenorrhea, P... OMIM:603896
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Optic Atrophy 9
Optic atrophy OMIM:616289
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Hearing impairment, Facial palsy ORPHA:178377
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Attenuation of retinal blood vessels, Geo... OMIM:619260
Narp Syndrome
Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar to... ORPHA:644
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Spinocerebellar Ataxia 7
Optic atrophy, Mental deterioration, Pigmentary retinopathy, Macular degeneration OMIM:164500
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
3-Methylglutaconic Aciduria Type 9
Optic atrophy, EEG abnormality, Aggressive behavior, Hypsarrhythmia ORPHA:505216
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Hypsarrhythmia OMIM:617086
Canavan Disease
EEG abnormality, Abnormality of retinal pigmentation, Cognitive impairment, Optic atrophy, Hearin... ORPHA:141
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Progressive Myoclonic Epilepsy Type 3
Progressive psychomotor deterioration, EEG with focal epileptiform discharges, Optic atrophy, Foc... ORPHA:263516
Isolated Optic Nerve Hypoplasia/Aplasia
EEG abnormality, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... ORPHA:137902
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Aggressive behavior, Abnormal autonomic nervous system physiology, Dementia ORPHA:329284
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy, Dementia OMIM:500001
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Diencephalic Syndrome
Optic atrophy, Abnormality of the hypothalamus-pituitary axis, Long penis, Macrotia ORPHA:1672
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Retinal degeneration, Progressive neurologic deterioration, Opt... OMIM:300438
Neuronal Intranuclear Inclusion Disease
Optic atrophy, EEG abnormality, Dementia ORPHA:2289
Null Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... ORPHA:280234
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Sensorineural hearing impairment, Retinal dystrophy, Cognitive impairment OMIM:614877
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Re... OMIM:251270
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cognitive impairment, EEG with generalized epileptiform discharges, EEG with abnormally slow freq... ORPHA:1947
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Irritability... ORPHA:206443
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Adult Krabbe Disease
EEG abnormality, Mental deterioration, Progressive neurologic deterioration, Erectile dysfunction... ORPHA:206448
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Progressive language deterioration, Cognitive impairment, Anxiety, Pigmenta... ORPHA:79264
Sarcosinemia
Optic atrophy, Infantile sensorineural hearing impairment, Emotional lability ORPHA:3129
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Krabbe Disease
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Motor deterioration, Hearing... OMIM:245200
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Optic atrophy, Optic disc pallor OMIM:612989
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
3-Methylglutaconic Aciduria, Type I
Optic atrophy, Cognitive impairment, Dementia, Self-mutilation OMIM:250950
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, EEG abnormality, Hypsarrhythmia, Multifocal epileptiform discharges OMIM:617166
Folinic Acid-Responsive Seizures
Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharg... ORPHA:79097
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cherry red spot of the macula, Irritability, Mental deterior... ORPHA:206436
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Hearing impairment, Abnormal nerve conduction velocity ORPHA:99014
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:264700
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, EEG abnormality, Vaginal hernia ORPHA:3173
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Wildervanck Syndrome
Hearing impairment, Pseudopapilledema OMIM:314600
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Stt3B-Cdg
Optic atrophy, Cryptorchidism, Small scrotum, Micropenis ORPHA:370924
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... OMIM:300009
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Emotional lability ORPHA:254343
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Spinocerebellar Ataxia Type 1
Cognitive impairment, Memory impairment, Optic atrophy, Abnormality of somatosensory evoked poten... ORPHA:98755
Leber Congenital Amaurosis
Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Cryptorchidism, Small scrotum, Micropenis OMIM:615597
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Joint hyperfl... ORPHA:2484
Autosomal Dominant Optic Atrophy, Classic Form
Sensorineural hearing impairment, Cognitive impairment, Morning glory anomaly, Temporal optic dis... ORPHA:98673
Optic Pathway Glioma
Optic atrophy, Precocious puberty, Papilledema, Neurofibromas ORPHA:2086
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Hypospadias, Cryptorchidism, Decreased testicular size OMIM:610198
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Irritability, Cherry red spot of the macula OMIM:615281
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, D... OMIM:249270
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Optic atrophy, Di... OMIM:598500
Neonatal Adrenoleukodystrophy
Sensorineural hearing impairment, EEG abnormality, Abnormality of retinal pigmentation, Low-set, ... ORPHA:44
Wolfram Syndrome 1
Sensorineural hearing impairment, Testicular atrophy, Pigmentary retinopathy, Optic atrophy, Hypo... OMIM:222300
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... ORPHA:909
Leukodystrophy, Hypomyelinating, 2
Cognitive impairment, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Optic... OMIM:608804
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... ORPHA:289157
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Impotence, Abnormal autonomic nervous system physiology, Cognit... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased number of large ... ORPHA:101085
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Self-injurious behavior OMIM:613638
Myotonic Dystrophy 1
Facial diplegia, Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Progressive neurologic deterioration OMIM:618253
Idiopathic Intracranial Hypertension
Papilledema, Abnormal emotion/affect behavior, Pulsatile tinnitus ORPHA:238624
Cockayne Syndrome A
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Abnormal p... OMIM:216400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Cholelithiasis, Retinal degeneration OMIM:214980
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials OMIM:193700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Madras Motor Neuron Disease
Sensorineural hearing impairment, Optic atrophy, Tinnitus, Facial palsy ORPHA:137867
Pachydermoperiostosis
Osteomyelitis, Osteoporosis, Arthritis, Osteolysis, Abnormal cortical bone morphology, Limitation... ORPHA:2796
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Tinnitus, Mild neuro... OMIM:601152
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital sensorineural hearing impairment, Protruding ear, Congenital stationary night blindnes... ORPHA:293967
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cryptorchidism, Pigmentary retinopathy, Optic atrophy, Male ... ORPHA:90321
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Distal Monosomy 13Q
Optic atrophy, Ambiguous genitalia, Primary adrenal insufficiency, Cognitive impairment ORPHA:1590
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, EEG abnormality, Mental deterioration OMIM:618868
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Sensorineural hearing impairment, Optic atrophy, Memory impairment, Dementia OMIM:604121
Muscle-Eye-Brain Disease
Optic atrophy, EEG abnormality, Cognitive impairment ORPHA:588
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy ORPHA:1021
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Stüve-Wiedemann Syndrome
Recurrent fractures, Flexion contracture of finger, Flexion contracture, Osteopenia, Camptodactyl... ORPHA:3206
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Sensorineural hearing impairment, Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Bone spic... OMIM:268315
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Pseudopapilledema, Facial palsy ORPHA:3456
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, External... ORPHA:79330
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy, Low-set ears, Clitoral hypertrophy, Fused labia minora OMIM:608688
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Temporal optic disc pallor, Retinal arterial occlu... ORPHA:98977
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Sensorineural hearing impairment, Decreased nerve conduction velocity, Rod-cone dy... OMIM:612674
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Testicular atrophy, Hypergonadotropic hypogonadism, Primary ame... OMIM:157640
Leber Optic Atrophy
Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy OMIM:535000
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Mental deterioration, Optic atrophy, Emotional lability, Per... OMIM:250100
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... ORPHA:1652
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Abnormal cortical bone morphology, Increased susceptibility to fractures ORPHA:2769
Lethal Ataxia With Deafness And Optic Atrophy
Congenital sensorineural hearing impairment, EEG with focal epileptiform discharges, Decreased mo... ORPHA:1187
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Apathy, Decreased serum testosterone concentration, ... ORPHA:465508
Norrie Disease
Sensorineural hearing impairment, Retinal detachment, Optic atrophy, Aggressive behavior, Retinal... OMIM:310600
Wolfram Syndrome 2
Sensorineural hearing impairment, Optic neuropathy, Oligomenorrhea, Primary amenorrhea, Optic atr... OMIM:604928
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Abnormal peripheral myelination, Dec... OMIM:133540
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Decreased sensory nerve conduction velocity, Cognitive impairment, Onion bulb f... ORPHA:320375
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Bilateral sensorineural hearing impairment, Progressive psyc... ORPHA:309271
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... OMIM:300578
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... ORPHA:320406
Aarskog-Scott Syndrome
Large earlobe, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, El... OMIM:305400
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Warburg Micro Syndrome 2
Small scrotum, Micropenis, Optic atrophy, Asymmetry of the ears, Macrotia, Cryptorchidism, Hypopl... OMIM:614225
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Optic atrophy, Rapid neuro... ORPHA:585
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Absent gallbladder, Abnormal ... ORPHA:171929
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Hypsarrhy... ORPHA:485421
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic neuropathy, Hearing impairment OMIM:618249
Xeroderma Pigmentosum, Complementation Group B
Sensorineural hearing impairment, Decreased nerve conduction velocity, Pigmentary retinopathy, Op... OMIM:610651
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... ORPHA:2658
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic neuropathy, Optic disc pallor, Sensorineural hearing impairment, Decreased motor nerve cond... ORPHA:101076
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Optic atrophy, Vestibular areflexia ORPHA:504476
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive psychomotor deterioration, Optic atrophy, Emotio... ORPHA:309263
Mend Syndrome
Low-set ears, Aggressive behavior, Cryptorchidism, Abnormal auditory evoked potentials ORPHA:401973
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Papilledema, ... ORPHA:54595
Wolfram Syndrome
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Optic atrophy, Ma... ORPHA:3463
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Decreased ... OMIM:231550
Pineoblastoma
Retinoblastoma, Cognitive impairment, Papilledema, Progressive neurologic deterioration, Memory i... ORPHA:251909
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormality of central somatosensory evoked potentials, Optic disc pallor, EEG wi... OMIM:213700
Meningioma
Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... ORPHA:2495
Peroxisome Biogenesis Disorder 4B
Sensorineural hearing impairment, Adrenal insufficiency, Decreased nerve conduction velocity, Rod... OMIM:614863
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... ORPHA:1435
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Aniridia 2
Optic atrophy OMIM:617141
Oculodentodigital Dysplasia
Abnormal cortical bone morphology, Cranial hyperostosis, Hyperostosis, Camptodactyly of finger ORPHA:2710
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Hypertensive retinopathy, Papilledema, Papillary cystadenoma of the epi... ORPHA:892
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy, Absent earlobe, EEG abnormality, Aplasia/Hypoplasia of the earlobes OMIM:609037
7Q11.23 Microduplication Syndrome
Large earlobe, Self-injurious behavior, Cryptorchidism, Overfolded helix, Hypospadias, Anxiety, L... ORPHA:96121
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Sensorineural hearing impairment, Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septa... OMIM:146255
Steinert Myotonic Dystrophy
Facial diplegia, Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotrop... ORPHA:273
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Micropenis, Papilledema, Retinal vascular tortuosity, Male hypogonadism, Bila... OMIM:619471
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior OMIM:300322
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Severe sensorineural hearing impairment, Low-set ears, Abnormal optic disc morphology ORPHA:363417
Microcephaly, Epilepsy, And Diabetes Syndrome 1
External genital hypoplasia, Optic atrophy, Hypsarrhythmia, Hypogonadism, Cryptorchidism, Diabete... OMIM:614231
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Granular macular appearance, Uterine neoplasm, Prostate cancer... ORPHA:71505
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, EEG abnormality, Cryptorchidism, Abnormality of the Leydig cells, Cupped ear,... ORPHA:3063
Phace Association
Optic nerve hypoplasia, Congenital hypothyroidism, Optic atrophy, Horner syndrome, Lingual thyroi... OMIM:606519
Norrie Disease
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Abn... ORPHA:649
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Supernumerary nipple, Overfolded helix, Hypospadias, Low-set, posteriorly ro... ORPHA:397715
Osteogenesis Imperfecta
Recurrent fractures, Flexion contracture, Osteopenia, Fractures of the long bones, Osteoarthritis... ORPHA:666
Aspartylglucosaminuria
Joint stiffness, Abnormal cortical bone morphology, Arthritis ORPHA:93
Pagod Syndrome
Agonadism, Optic atrophy, Ambiguous genitalia, Abnormal morphology of female internal genitalia, ... ORPHA:991
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... ORPHA:284339
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Micropenis, Optic nerve hypoplasia, Retinal dystrophy, Optic atrophy, De... OMIM:619321
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Hypospadias, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morpholo... ORPHA:508498
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Increased susceptibility to fractures, Camptodactyly ORPHA:90354
Brittle Cornea Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:614170

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.

Phenotype Allele Zygosity Sex Life Stage
Sternum - MPATH pathological process term fibro-osseous lesion Prdm5em1(IMPC)Tcp HOM Early adult
Sternum - MPATH pathological process term hyperplasia Prdm5em1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological process term dysplasia Prdm5em1(IMPC)Tcp HOM Early adult

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 Prdm5.

No publications found that use IMPC mice or data for Prdm5.

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MGI Allele Allele Type Produced
Prdm5tm362628(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prdm5em1(IMPC)Tcp Indel Mice

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