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 optic disk morphology Prdm5em1(IMPC)Tcp HOM Early adult 1.71×10-05
abnormal skin morphology Prdm5em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Prdm5em1(IMPC)Tcp HOM   Early adult 1.95×10-05
abnormal auditory brainstem response Prdm5em1(IMPC)Tcp HOM   Early adult 1.80×10-08

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

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Gross Pathology and Tissue Collection

Images

11 Images

Histopathology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Hind Leg and Hip

1 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 hypermobility, Camptodactyly, Osteoporosis, Increased susceptibility to fractures ORPHA:90354
Brittle Cornea Syndrome 2
Joint hypermobility, Recurrent fractures 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
Fibrous dysplasia of the bones, Recurrent fractures ORPHA:57782
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Depression, Sensorineural hearing impairment, Progressive hearing impairment, Hear... OMIM:614296
Osteogenesis Imperfecta, Type Viii
Osteopenia, Decreased skull ossification, Type 1 collagen overmodification, Decreased calvarial o... OMIM:610915
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Hearing impairment, Rod-cone dystrophy OMIM:617717
Osteoporosis
Osteoporosis OMIM:166710
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
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
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:1802
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Progressive sensorineural hearing impairment OMIM:165199
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Mental deterioration, EEG with generalized polyspikes, Retinal dystrophy OMIM:614706
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure ORPHA:46532
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Wolfram-Like Syndrome
Optic atrophy, Delayed puberty, Central diabetes insipidus, Male hypogonadism, Depression, Periph... ORPHA:411590
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Psychomotor deterioration, Rod-cone dystrophy OMIM:609055
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... OMIM:114000
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Hearing impairment, EEG abnormality, Chorioretinal coloboma ORPHA:2732
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Hearing impairment, Optic disc pallor OMIM:165300
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures OMIM:166260
Cranio-Osteoarthropathy
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis ORPHA:1525
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy, EEG abnormality, Mental deterioration OMIM:610951
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Memory impairment OMIM:620312
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor, Dementia OMIM:182830
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Thin bony cortex OMIM:265900
Eiken Syndrome
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Hearing impairment, Decreased number ... OMIM:609260
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Decreased nerve conduction velocity, Premature pubarche, Sensory axo... ORPHA:457205
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment ORPHA:2246
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Merrf
Optic atrophy, Sensorineural hearing impairment, Cognitive impairment ORPHA:551
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Hearing impairment, Decreased number of large periph... OMIM:617087
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Osteogenesis Imperfecta, Type Xxii
Multiple prenatal fractures, Reduced bone mineral density, Recurrent fractures, Thin bony cortex OMIM:619795
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal enchondral ossification, Joint stiffness, Camptodacty... ORPHA:2635
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Premature ovarian insufficiency, Depression, Peripheral axonal neuropathy, Amenorrhea OMIM:619425
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Retinal degeneration, ... OMIM:618889
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Irritability, Depression, Macular degeneration, EEG abnormality, Retinal degenerat... OMIM:256730
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Sensory axonal neuropathy, Adult onset sensorineural hearing impairmen... ORPHA:329314
Usher Syndrome, Type Iiib
Hearing impairment, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Sensorineural hearing impairment, Cognitive impairment ORPHA:1171
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Optic disc pallor ORPHA:98890
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Bilateral sensorineural hearing impairment, Papilledema, Progressive hearing impairment, Retinal ... OMIM:124950
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Peripheral axonal neuropathy, Sensorineural hearing impairment, Facial palsy, Absent brainstem au... OMIM:617519
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures ORPHA:1486
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Osteolysis involving bones of the lower limbs, Osteolysis... ORPHA:73
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Mental deterioration OMIM:258700
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Cryptorchidism, Hypogonadotropic hypogonadism, Mental deterioration OMIM:619310
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cognitive impairment OMIM:613909
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Irritability, Hearing impairment, Multifocal epileptiform discharges OMIM:609056
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Sensorineural hearing impairment, Hearing impairment, Rod-co... OMIM:311070
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia, Cognitive impairment ORPHA:276183
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Hearing impairment, Abnormality of the autonomic nervous system ORPHA:1186
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy, Secondary amenorrhea, Primary amenorrhea OMIM:620314
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Irritability, Depression, Emotional lability, Cognitive impairment, Retinopathy ORPHA:216873
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Decreased fertility, Abnormality of the hypothalamus-pituitary axis, Abnormality o... ORPHA:1173
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener... OMIM:618195
Optic Atrophy 5
Optic atrophy, Abnormality of pattern visual evoked potentials, Optic disc pallor OMIM:610708
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Cognitive impairment OMIM:258501
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Hypsarrhythmia, Optic disc pallor OMIM:618776
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Drusen, Optic disc pallor OMIM:618632
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Geographic atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... OMIM:619260
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex OMIM:617952
Canavan Disease
Optic atrophy, Cognitive impairment, Hearing impairment, Abnormality of visual evoked potentials,... ORPHA:141
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Late-Infantile/Juvenile Krabbe Disease
Irritability, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduct... ORPHA:206443
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Premature ovarian insufficiency, Decreased circulating progesterone, Memory impair... OMIM:603896
Narp Syndrome
Irritability, Hearing impairment, Retinal pigment epithelial mottling, Dementia, Rod-cone dystrop... ORPHA:644
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:600081
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... OMIM:300554
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy, Mental deterioration OMIM:164500
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Focal EEG discharges with secondary generalization, Progressive psychomotor deteri... ORPHA:263516
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time OMIM:616881
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, P... ORPHA:280234
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Emotional lability OMIM:613672
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Abnormality of pattern visual evoked potentials, Optic disc pallor, Cognitive impairment, Dementi... ORPHA:1947
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Diencephalic Syndrome
Optic atrophy, Macrotia, Abnormality of the hypothalamus-pituitary axis, Long penis ORPHA:1672
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Pigmentary retinopathy, Motor deterioration, Cognitive impairment... ORPHA:79264
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal dysplas... OMIM:251270
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Hear... OMIM:245200
Infantile Krabbe Disease
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Decrease... ORPHA:206436
Wolfram Syndrome 2
Optic atrophy, Diabetes insipidus, Depression, Sensorineural hearing impairment, Optic neuropathy... OMIM:604928
Optic Atrophy 14
Optic disc pallor OMIM:620550
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Optic disc pallor OMIM:618970
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Neuronal Intranuclear Inclusion Disease
Optic atrophy, EEG abnormality, Dementia ORPHA:2289
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Sensorineural hearing impairment, Optic disc pallor OMIM:612989
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, Peripheral demy... ORPHA:206448
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... OMIM:241530
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Emotional lability ORPHA:254343
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Cholel... ORPHA:909
Idiopathic Intracranial Hypertension
Depression, Papilledema, Abnormal emotion, Pulsatile tinnitus ORPHA:238624
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... OMIM:300009
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Wolfram Syndrome 1
Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Hearing impairment, Hypothyr... OMIM:222300
Stt3B-Cdg
Optic atrophy, Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Leber Congenital Amaurosis
Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Melnick-Needles Syndrome
Joint hypermobility, Osteolytic defects of the phalanges of the hand, Craniofacial hyperostosis, ... ORPHA:2484
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sensorineural hearing impairment, Cone/cone-rod dystrophy, Diabetes mellitus, Reti... OMIM:249270
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Infantile Neuroaxonal Dystrophy
Optic atrophy, Emotional lability, Peripheral axonal neuropathy, Abnormal autonomic nervous syste... ORPHA:35069
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Mild neurosensory hearing impairment, Abnormality of visual evoked potentials, Tin... OMIM:601152
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Abnormal autonomic nervous s... OMIM:598500
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Hyperinsulinemia, Sensorineural hearing i... ORPHA:791
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Irregular menstruation, Sensorineural hearing... OMIM:216400
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Optic nerve hypoplasia, Sensorineural hearing impairment, Ab... ORPHA:101085
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Adult-Onset Autosomal Dominant Leukodystrophy
Erectile dysfunction, Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditor... ORPHA:99027
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Sensorineural hearing impairment, Inappropriate antid... ORPHA:79330
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Stankiewicz-Isidor Syndrome
Hypospadias, Low-set ears, Abnormal optic disc morphology, Hearing impairment, Shawl scrotum, Cry... OMIM:617516
Myotonic Dystrophy 1
Testicular atrophy, Facial diplegia, Cholelithiasis, Hypogonadism OMIM:160900
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Cryptorchidism, Hearing impairment, Macrotia,... ORPHA:90321
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials OMIM:193700
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Pachydermoperiostosis
Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility, Osteoporosis, Osteoly... ORPHA:2796
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Delayed puberty, Underdeveloped superior crus of antihelix... ORPHA:293967
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Memory... ORPHA:309271
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral hypomyelination, Aganglionic megacolon, Decreased nerve conduction velocity, Short-seg... OMIM:609136
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor, Reduced sperm motility OMIM:615434
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal cortical bone morphology, Elbow flexion contracture, Limitation of joint mob... ORPHA:3206
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Bilater... OMIM:268315
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Transient hearing i... ORPHA:448237
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Memory impairment, Depression, Sensorineural hearing impairment, Type II diabetes ... OMIM:604121
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Depression, Sensory axonal neuropathy, Sensorineural hearing imp... OMIM:157640
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormality of visual evoked ... ORPHA:485421
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Hemochromatosis, Type 1
Azoospermia, Impotence, Testicular atrophy, Amenorrhea, Diabetes mellitus, Hypogonadotropic hypog... OMIM:235200
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Emotio... ORPHA:309263
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pe... OMIM:133540
Dent Disease
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... ORPHA:1652
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, EEG with focal epileptiform discharges, Congenital sensorineural hearing impairmen... ORPHA:1187
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Peripheral demyelination,... OMIM:250100
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Cryptorchidism, Rod-cone dystrophy, Pigmenta... OMIM:300578
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures ORPHA:2769
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnormal autonomic n... OMIM:231550
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Cognitive impairmen... ORPHA:320375
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Trisomy 10P
Rectovaginal fistula, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials... ORPHA:171929
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... ORPHA:2658
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypogonadis... OMIM:610651
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Amenorrh... ORPHA:465508
Norrie Disease
Optic atrophy, Retinal dysplasia, Retinal detachment, Sensorineural hearing impairment, Dementia,... OMIM:310600
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Sensorineural hearing impa... OMIM:614863
Wolfram Syndrome
Optic atrophy, Delayed puberty, Male hypogonadism, Diabetes insipidus, Sensorineural hearing impa... ORPHA:3463
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Meningioma
Transient global amnesia, Impotence, Cognitive impairment, Decreased circulating cortisol level, ... ORPHA:2495
Oculodentodigital Dysplasia
Hyperostosis, Cranial hyperostosis, Abnormal cortical bone morphology, Camptodactyly of finger ORPHA:2710
Pineoblastoma
Memory impairment, Retinoblastoma, Cognitive impairment, Papilledema, Progressive neurologic dete... ORPHA:251909
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Decreased response to growth hormone stimulatio... ORPHA:1435
Mend Syndrome
Low-set ears, Cryptorchidism, Abnormal auditory evoked potentials ORPHA:401973
Steinert Myotonic Dystrophy
Facial diplegia, Impotence, Cognitive impairment, Decreased response to growth hormone stimulatio... ORPHA:273
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Papilledema, Micropenis, Male hypogonadism, Rod-cone dystrophy, Retinal... OMIM:619471
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Sensorineural hearing impairment, Aplasia of the uteru... OMIM:146255
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Low-set ears, Severe sensorineural hearing impairment, Abnormal optic disc morphology ORPHA:363417
Leber Congenital Amaurosis 15
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... OMIM:613843
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Small earlobe, Low-set ears, Testicular atrophy, Abnormality of the Leydig cells, EE... ORPHA:3063
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Pancreatic adenocarcinoma, ... ORPHA:71505
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Retinal dystrophy, Hypospadias, Low-set ears, Abnormal optic d... ORPHA:397715
Osteogenesis Imperfecta
Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Fractures of the lon... ORPHA:666
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Irritability, Abnormal vitreous humor morpholog... ORPHA:649
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hypospadias... ORPHA:96121
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Hearing impairment... ORPHA:79098
Aspartylglucosaminuria
Joint stiffness, Arthritis, Abnormal cortical bone morphology ORPHA:93
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Hearing impairment, Abnormal... ORPHA:508498
Brittle Cornea Syndrome
Joint hypermobility, Camptodactyly, Osteoporosis, Increased susceptibility to fractures ORPHA:90354
Brittle Cornea Syndrome 2
Joint hypermobility, Recurrent fractures 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
Eye - MPATH pathological process term dysplasia Prdm5em1(IMPC)Tcp HOM Early adult
Sternum - MPATH pathological process term hyperplasia 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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