Gene Summary

Name:
scaffolding protein involved in DNA repair
Synonyms:
2310008H04Rik

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
abnormal optic disk morphology Spidrtm1b(EUCOMM)Hmgu HOM   Early adult 2.78×10-05
female infertility Spidrtm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased bone mineral content Spidrtm1b(EUCOMM)Hmgu HOM Early adult 3.50×10-10
decreased lean body mass Spidrtm1b(EUCOMM)Hmgu HOM   Early adult 9.62×10-06
increased total body fat amount Spidrtm1b(EUCOMM)Hmgu HOM Early adult 5.89×10-08
male infertility Spidrtm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal eye posterior chamber depth Spidrtm1b(EUCOMM)Hmgu HOM Early adult 1.41×10-06
decreased bone mineral density Spidrtm1b(EUCOMM)Hmgu HOM Early adult 3.62×10-09

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
bone 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cecum 3.08% (11 of 357)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 557)
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.36% (2 of 563)
oral epithelium 0.0%
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
striatum 0.54% (3 of 556)
testis 1.08% (6 of 557)
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.26% (12 of 368)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Forepaw

9 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

VIP of right fundus

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Spidr 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 Spidr by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Delayed epiphyseal ... OMIM:618889
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia ORPHA:1646
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Familial Hyperprolactinemia
Infertility, Female hypogonadism, Osteopenia, Amenorrhea, Menorrhagia, Osteoporosis, Oligomenorrhea ORPHA:397685
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Cataract, Per... OMIM:143200
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility OMIM:261550
Optic Atrophy 5
Optic atrophy OMIM:610708
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Flexion contracture, Optic atrophy OMIM:616881
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Autosomal Recessive Spastic Paraplegia Type 45
Ankle flexion contracture, Flexion contracture of toe, Optic atrophy, Knee flexion contracture ORPHA:320396
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Infertility, Optic disc pallor OMIM:268040
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis, Optic atrophy ORPHA:2787
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Craniosynostosis, Optic atrophy, Increased bone mineral density ORPHA:178377
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Developmental cataract, Optic atrophy ORPHA:2572
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Optic atrophy ORPHA:1538
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Sclerosteosis
Increased bone mineral density, Optic atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal ... ORPHA:3152
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density, Optic atrop... OMIM:239100
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Optic atrophy ORPHA:2773
Periventricular Nodular Heterotopia 7
Flexion contracture, Optic atrophy OMIM:617201
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Cherubism
Bone cyst, Optic atrophy ORPHA:184
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Premature Ovarian Failure 6
Primary amenorrhea, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, St... OMIM:612310
Nescav Syndrome
Peripheral axonal neuropathy, Flexion contracture, Optic atrophy OMIM:614255
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Optic atrophy OMIM:613162
Merrf
Multiple lipomas, Optic atrophy ORPHA:551
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Onion bulb formation, Decreased sensory nerve conduction velocity, Decreased... OMIM:609260
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Cofs Syndrome
Joint stiffness, Abnormality of retinal pigmentation, Cataract, Arthrogryposis multiplex congenit... ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Flexion contracture, Optic atrophy OMIM:613154
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Flexion contracture of toe, Optic atrophy OMIM:619323
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Restricted large joint movement OMIM:309555
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Peripheral axonal neuropathy, Optic atrophy, Amenorrhea OMIM:619425
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Attenuation of retinal ... OMIM:604393
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Obesi... OMIM:616188
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Striatonigral Degeneration, Infantile
Failure to thrive, Optic atrophy OMIM:271930
Retinitis Pigmentosa
Atypical scarring of skin, Abnormality of retinal pigmentation, Abnormal retinal vascular morphol... ORPHA:791
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Ring Chromosome Y Syndrome
Azoospermia, Abnormal spermatogenesis, Obesity, Male hypogonadism, Male infertility, Female infer... ORPHA:261529
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Pontocerebellar Hypoplasia, Type 1E
Elbow flexion contracture, Optic atrophy, Knee flexion contracture OMIM:619303
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Optic atrophy ORPHA:1513
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Cataract, Retinal detachment, Corne... ORPHA:1473
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor, Osteopenia OMIM:619446
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Failure to thrive, Optic atrophy, Osteopetrosis OMIM:615085
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy, Reduced sperm motility OMIM:602271
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Behr Syndrome
Achilles tendon contracture, Hamstring contractures, Adductor longus contractures, Optic atrophy OMIM:210000
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Aromatase Deficiency
Osteopenia, Primary amenorrhea, Obesity, Osteoporosis, Eunuchoid habitus, Male infertility, Delay... ORPHA:91
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Brunet-Wagner Neurodevelopmental Syndrome
Increased skull ossification, Optic atrophy OMIM:619690
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Cataract, Macular degeneration, Optic atrophy OMIM:204200
Ceroid Lipofuscinosis, Neuronal, 1
Flexion contracture, Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic nerve hypoplasia, Corneal opacity, Optic disc hypoplasia, Periphera... ORPHA:137902
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Osteoporosis, Joint hypermobility, Failure to thrive, Optic ... OMIM:600118
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Flexion contracture, Optic atrophy OMIM:618324
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cataract, Osteoporosis, Secondary amenorrhea,... ORPHA:79239
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Optic disc pallo... ORPHA:97229
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Amelogenesis imperfecta OMIM:217080
Optic Atrophy 6
Optic atrophy OMIM:258500
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Sensory axonal neuropathy, Optic atrophy ORPHA:329314
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Juvenile Paget Disease
Cranial hyperostosis, Recurrent fractures, Abnormality of retinal pigmentation, Osteoporosis, Coa... ORPHA:2801
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic... OMIM:311070
Leber Congenital Amaurosis
Cataract, Abnormality of retinal pigmentation, Abnormality of the optic disc, Keratoconus ORPHA:65
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Optic Atrophy 9
Optic atrophy OMIM:616289
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Norrie Disease
Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia, Retinal fold, Opacificat... OMIM:310600
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Failure to thrive OMIM:619518
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, Joint contractures involving the joints of the feet, Abnormal peripher... ORPHA:457205
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Optic disc pallor, Osteopetrosis, Facial palsy, Optic atrophy OMIM:611490
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Leber Congenital Amaurosis 9
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy OMIM:608553
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Cataract, Decreased sensory nerve conduction velocity, P... OMIM:609033
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... ORPHA:40923
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Schindler Disease, Type I
Osteopenia, Optic atrophy OMIM:609241
Peroxisome Biogenesis Disorder 8B
Cataract, Retinal dystrophy, Failure to thrive, Optic atrophy OMIM:614877
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation, Fused cervical vertebrae ORPHA:3456
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Diaphyseal sclerosis, Recurrent fractures, Osteomyelitis, Mandibular osteom... OMIM:259710
Hyperostosis Cranialis Interna
Osteosclerosis of the base of the skull, Calvarial hyperostosis, Hyperostosis cranialis interna, ... OMIM:144755
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Male hypogonadism, Optic atrophy ORPHA:411590
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Optic disc pallor, Flexion contracture OMIM:619328
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Cerebellar Ataxia-Hypogonadism Syndrome
Decreased fertility, Hypogonadotropic hypogonadism, Abnormality of retinal pigmentation, Optic at... ORPHA:1173
Dysosteosclerosis
Abnormal cranial nerve morphology, Increased bone mineral density, Recurrent fractures, Craniofac... ORPHA:1782
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Optic atrophy OMIM:618228
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Mitochondrial Complex I Deficiency, Nuclear Type 7
Failure to thrive, Optic atrophy OMIM:618229
Spastic Paraplegia 2, X-Linked
Flexion contracture, Optic atrophy OMIM:312920
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Peripheral demyelination, Optic atrophy, Flexion contracture OMIM:618237
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Optic atrophy OMIM:603896
Diencephalic Syndrome
Decreased body weight, Optic atrophy, Cachexia ORPHA:1672
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Achilles tendon contracture, Decreased nerve conduction velocity, Rod-cone ... OMIM:612674
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Optic atrophy OMIM:617810
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Inguinal hernia, Congenital finger flexion contractures, Joint stiffness, Optic atrophy ORPHA:1154
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
Albers-Schönberg Osteopetrosis
Recurrent fractures, Arthritis, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Mandib... ORPHA:53
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Cataract, Retinal dysplasia, Camptodactyly of finger, Optic atrophy ORPHA:272
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:616469
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Cataract, Optic disc pallor ORPHA:3173
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Microcornea, Female infertility, Premature ovarian insufficiency OMIM:110100
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Retinal detachment, Cat... OMIM:152950
Cach Syndrome
Optic neuritis, Primary amenorrhea, Flexion contracture, Cataract, Secondary amenorrhea, Arthrogr... ORPHA:135
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Optic atrophy, Joint contracture of the hand OMIM:258650
Zika Virus Disease
Absent foveal reflex, Arthritis, Iris coloboma, Lens subluxation, Optic disc hypoplasia, Miscarri... ORPHA:448237
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy, Craniosynostosis ORPHA:1528
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Pterygium, Arthritis, Carpal osteolysis, Osteolysis involving bones of the lower limb... ORPHA:371428
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Osteomyelitis, Failure to thrive, Osteopetrosis... OMIM:259700
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:614498
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Decreased body weight, Flexion contracture, Small for gestational age, Failure to thrive, Optic a... OMIM:618346
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Progressive flexion contractures, Optic atrophy OMIM:617481
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Abnormality of the optic nerve, Optic neuropa... ORPHA:98977
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis, Optic atrophy ORPHA:529665
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor, Joint laxity OMIM:617121
Primary Ciliary Dyskinesia
Female infertility, Rod-cone dystrophy, Abnormal sperm motility, Male infertility ORPHA:244
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic nerve hypoplasia, Failure to thrive, Optic atrophy ORPHA:163937
46,Xx Gonadal Dysgenesis
Osteopenia, Primary amenorrhea, Secondary amenorrhea, Osteoporosis of vertebrae, Reduced bone min... ORPHA:243
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Camptodactyly of finger, Retinal degeneration, Optic atrophy OMIM:214980
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Congenital Disorder Of Glycosylation, Type Id
Flexion contracture, Optic atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Iris c... OMIM:601110
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Flexion contracture, Optic disc pallor, Optic atrophy, Motor axonal ne... OMIM:609541
Amish Lethal Microcephaly
Limitation of joint mobility, Osteoporosis, Optic atrophy, Decreased skull ossification ORPHA:99742
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... OMIM:615233
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Cataract, Optic atrophy ORPHA:1914
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Decreased number of peripheral myelinated nerve fibers, Peripheral a... ORPHA:320406
Roifman-Chitayat Syndrome
Umbilical hernia, Osteopenia, Optic atrophy, Arthritis OMIM:613328
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Poems Syndrome
Lipodystrophy, Sclerosis of foot bone, Erectile dysfunction, Sclerosis of hand bone, Sclerosis of... ORPHA:2905
Axial Spondylometaphyseal Dysplasia
Peripheral retinal degeneration, Delayed ossification of carpal bones, Osteopenia, Cataract, Rod-... ORPHA:168549
Leukodystrophy, Hypomyelinating, 21
Failure to thrive, Optic atrophy, Hypogonadotropic hypogonadism OMIM:619310
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy ORPHA:141
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Infantile Refsum Disease
Cataract, Rod-cone dystrophy, Failure to thrive, Facial palsy, Optic atrophy ORPHA:772
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Flexion contracture, Craniosynostosis OMIM:619076
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Male infertility, Obstructive azoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Jalili Syndrome
Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Optic atrophy, Amelogenes... ORPHA:1873
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Optic atrophy OMIM:614651
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Craniosynostosis, Coronal craniosynostosis, Papilledema, Sagittal cr... OMIM:614188
Marshall-Smith Syndrome
Craniosynostosis, Increased susceptibility to fractures, Failure to thrive, Reduced bone mineral ... ORPHA:561
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Decreased skull ossification, Oligospermia, Umbilical hernia, Keratocon... ORPHA:2067
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Absent brainstem audit... ORPHA:1215
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract, Optic disc pallor, Osteopenia ORPHA:309288
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Flexion contracture OMIM:616204
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Menorrhagia, Astigmatism, Optic disc pallor, Ocular albinism OMIM:614077
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Autosomal Dominant Optic Atrophy, Classic Form
Temporal optic disc pallor, Morning glory anomaly, Cataract, Optic atrophy, Hypogonadism ORPHA:98673
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Osteopenia, Optic atrophy OMIM:617913
Spinocerebellar Ataxia-Dysmorphism Syndrome
Reduced bone mineral density, Joint hyperflexibility, Optic atrophy ORPHA:1185
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial palsy, Patchy sclerosis of finger phalanx, Optic atrophy, Facial hyperostosis OMIM:218400
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Sturge-Weber Syndrome
Heterochromia iridis, Corneal dystrophy, Iris coloboma, Retinal detachment, Conjunctival telangie... ORPHA:3205
Alg8-Cdg
Retinopathy, Small for gestational age, Cataract, Failure to thrive, Abnormality of subcutaneous ... ORPHA:79325
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Wolfram Syndrome 2
Optic neuropathy, Primary amenorrhea, Optic atrophy, Oligomenorrhea OMIM:604928
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Contracture of the proximal interphalangeal jo... ORPHA:293967
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Flexion contracture, Optic atrophy OMIM:609180
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pal... ORPHA:216866
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood... OMIM:300578
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Zellweger Syndrome
Posterior embryotoxon, Epiphyseal stippling, Cataract, Corneal opacity, Abnormal chorioretinal mo... ORPHA:912
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Failure to thrive, Osteopenia, Optic atrophy, Contractures of the large joints ORPHA:329178
Retinitis Pigmentosa 58
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613617
Warburg Micro Syndrome 3
Developmental cataract, Flexion contracture, Microcornea, Cataract, Optic atrophy OMIM:614222
Xfe Progeroid Syndrome
Corneal scarring, Optic atrophy, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fa... OMIM:610965
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... ORPHA:280914
Pontocerebellar Hypoplasia, Type 2E
Failure to thrive, Osteoporosis, Optic atrophy, Flexion contracture OMIM:615851
Warburg Micro Syndrome 2
Developmental cataract, Flexion contracture, Microcornea, Cataract, Optic atrophy OMIM:614225
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Microcornea, Optic atrophy, Decreased fertility OMIM:234050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Cataract, Geographic atrophy, Abnormal auditory evoked potentials, Optic di... OMIM:619260
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Developmental cataract, Increased bone mineral density, Small for gestatio... OMIM:127000
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microcornea, Cataract, Iris coloboma, Abnormally ossified vertebrae, Optic... ORPHA:3301
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Increased bone mineral density, Decreased osteoclast count, Optic disc pall... OMIM:259720
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Hypoplasia of the fovea, Cataract, Corneal... ORPHA:93400
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Conjunctivitis, Keratitis, Sagittal cranio... OMIM:123500
Multiple Sulfatase Deficiency
Joint stiffness, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, A... ORPHA:585
Leber Optic Atrophy
Leber optic atrophy, Optic neuropathy, Optic atrophy, Central retinal vessel vascular tortuosity OMIM:535000
Walker-Warburg Syndrome
Chorioretinal dysplasia, Abnormality of the optic nerve, Microcornea, Cataract, Retinal detachmen... ORPHA:899
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Temtamy Preaxial Brachydactyly Syndrome
Abnormality of the lens, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnorm... ORPHA:363417
Spastic Paraplegia Type 2
Limitation of joint mobility, Optic atrophy ORPHA:99015
Combined Oxidative Phosphorylation Deficiency 7
Failure to thrive, Facial diplegia, Optic atrophy OMIM:613559
Infantile Cerebellar-Retinal Degeneration
Retinal dystrophy, Failure to thrive, Decreased body weight, Optic atrophy OMIM:614559
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Irregular menstruation, Small for gestational age, Epiphyseal stip... OMIM:101800
Classic Homocystinuria
Joint stiffness, Recurrent fractures, Hernia, Ectopia lentis, Abnormality of retinal pigmentation... ORPHA:394
Cockayne Syndrome A
Irregular menstruation, Atypical scarring of skin, Enamel hypoplasia, Ivory epiphyses of the phal... OMIM:216400
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Recurrent fractures, Corneal opacity, Abnormal pup... ORPHA:1764
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Cataract, Corneal opacity, Inguinal hernia, Umbilical hernia, Opti... ORPHA:93399
Xeroderma Pigmentosum, Complementation Group B
Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Hypogonadism OMIM:610651
Androgen Insensitivity Syndrome
Inguinal hernia, Male infertility ORPHA:754
Hyperoxaluria, Primary, Type I
Retinopathy, Increased bone mineral density, Optic neuropathy, Pathologic fracture, Choroidal neo... OMIM:259900
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Joint hyperflexibility, Optic atrophy, Abnormal re... ORPHA:2715
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Enamel hypoplasia, Cataract, Conjunctivitis, Pigme... ORPHA:90321
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic neuropathy, Failure to thrive, Optic atrophy OMIM:618249
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Leukodystrophy, Progressive, Early Childhood-Onset
Optic disc pallor, Flexion contracture OMIM:617762
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Multiple joint contractures, Optic atrophy ORPHA:504476
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Primary amenorrhea, Generalized joint laxity, Lipoma, Pigmentary retinopathy, Optic disc pallor ORPHA:502423
Cerebrotendinous Xanthomatosis
Cataract, Optic disc pallor, Osteoporosis, Abnormality of central somatosensory evoked potentials OMIM:213700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Optic atrophy OMIM:618476
Cockayne Syndrome B
Developmental cataract, Atypical scarring of skin, Small for gestational age, Hypoplasia of the i... OMIM:133540
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Halperin-Birk Syndrome
Developmental cataract, Flexion contracture, Congenital diaphragmatic hernia, Inguinal hernia, Fa... OMIM:618651
47,Xyy Syndrome
Azoospermia, Oligospermia, Male infertility, Congenital stationary night blindness ORPHA:8
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Finger joint hypermobility, Astigmatism, Obesity, Hip contracture, Elbow flexion contracture, Opt... OMIM:618493
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Abnormal autonomic nervous system physiology, Optic atrophy ORPHA:466934
Bardet-Biedl Syndrome 20
Astigmatism, Obesity, Papilledema, Rod-cone dystrophy, Male hypogonadism, Retinal vascular tortuo... OMIM:619471
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Abnormal autonomic nervous system physiology, Optic atrophy OMIM:616683
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Onion bulb formation, Decreased sensory nerve conduction velocity, Arthrogrypos... ORPHA:320375
Camurati-Engelmann Disease
Optic nerve compression, Craniofacial osteosclerosis, Slender build, Limitation of joint mobility... ORPHA:1328
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Axonal loss, Achilles tendon contracture, Tarsal sclerosis, Small for gestational age, Corneal sc... ORPHA:404454
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Primary amenorrhea, Failure to thrive in infancy, Atypical scarring of skin, Neck pte... ORPHA:99413
Turner Syndrome
Osteopenia, Primary amenorrhea, Failure to thrive in infancy, Atypical scarring of skin, Neck pte... ORPHA:881
Mosaic Monosomy X
Osteopenia, Primary amenorrhea, Failure to thrive in infancy, Atypical scarring of skin, Neck pte... ORPHA:99228
Monosomy X
Osteopenia, Primary amenorrhea, Failure to thrive in infancy, Atypical scarring of skin, Neck pte... ORPHA:99226
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency, H... ORPHA:572333
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Cataract, Astigmatism, Scarring alopecia of scalp, Ectopia pupillae, Optic atr... OMIM:618727
Glycine Encephalopathy With Normal Serum Glycine
Flexion contracture, Joint laxity, Hip contracture, Arthrogryposis multiplex congenita, Elbow fle... OMIM:617301
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor OMIM:618527
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Male infertility OMIM:244400
Knobloch Syndrome 1
Band keratopathy, Vitreoretinopathy, Developmental cataract, Persistent pupillary membrane, Perip... OMIM:267750
Alpha-Mannosidosis, Infantile Form
Cranial hyperostosis, Craniosynostosis, Osteopenia, Joint stiffness, Joint laxity, Astigmatism, C... ORPHA:309282
Primary Hyperoxaluria
Retinopathy, Recurrent fractures, Generalized osteosclerosis, Failure to thrive, Optic disc pallo... ORPHA:416
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Iris coloboma, Macular hypoplasia, Optic atrophy OMIM:615219
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Optic atrophy, Pathologic fracture, Osteoporosis, Increased susceptibility to fractur... OMIM:612199
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Mucopolysaccharidosis Type 2
Retinopathy, Retinal degeneration, Hip osteoarthritis, Limitation of joint mobility, Abnormality ... ORPHA:580
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Motor axonal neuropathy, O... OMIM:231550
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Optic nerve compression, Optic atrophy OMIM:612301
Cystinosis, Nephropathic
Retinopathy, Weight loss, Failure to thrive in infancy, Hypophosphatemic rickets, Corneal crystal... OMIM:219800
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor, Obesity OMIM:612291
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Optic atrophy, Hypogonadism, Pathologic fracture OMIM:614231
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Fractures of the long bones, Retinal degeneration, Osteopenia, Retinal fl... ORPHA:157850
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Epiretinal membrane, Phot... OMIM:616959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic nerve hypoplasia, Retinal dysplasia, Retinal detachment, Corneal opacity, Retinal... OMIM:236670
Peroxisome Biogenesis Disorder 1B
Rod-cone dystrophy, Epiphyseal stippling, Optic atrophy OMIM:601539
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Osteopenia, Optic neuropathy, Osteoporosis, Axona... ORPHA:909
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Developmental cataract, Decreased skull ossification, Papilledema, Cortica... ORPHA:93325
Cockayne Syndrome
Corneal ulceration, Lentiglobus, Developmental cataract, Pigmentary retinopathy, Retinal degenera... ORPHA:191
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic neuropathy, Sclerosis of skull base, Thin bony cortex, Mydriasis, ... OMIM:619727
Dpagt1-Cdg
Lipodystrophy, Developmental cataract, Flexion contracture, Astigmatism, Osteoporosis, Diffuse op... ORPHA:86309
Say-Barber-Miller Syndrome
Craniosynostosis, Knee flexion contracture, Rod-cone dystrophy, Panniculitis, Macular degeneratio... ORPHA:3132
Xeroderma Pigmentosum
Pterygium, Opacification of the corneal stroma, Craniofacial hyperostosis, Cataract, Conjunctival... ORPHA:910
7Q11.23 Microduplication Syndrome
Craniosynostosis, Tracheomalacia, Astigmatism, Obesity, Congenital diaphragmatic hernia, Joint hy... ORPHA:96121
Craniopharyngioma
Hypogonadotropic hypogonadism, Obesity, Increased susceptibility to fractures, Papilledema, Optic... ORPHA:54595
Bloom Syndrome
Retinopathy, Small for gestational age, Azoospermia, Adipose tissue loss, Oligospermia, Male infe... ORPHA:125
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Failure to thrive, Male hypogonadism, Male infertilit... ORPHA:90793
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Posterior cortical cataract, Limited w... ORPHA:67036
Incontinentia Pigmenti
Scarring, Retinal vascular proliferation, Retinal hemorrhage, Hypoplasia of the fovea, Cataract, ... OMIM:308300
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Chorioretinal coloboma, Minimal subcutaneous fat, Severe generalized osteoporosis, Knee flexion c... OMIM:210730
Phace Association
Developmental cataract, Optic nerve hypoplasia, Increased retinal vascularity, Horner syndrome, O... OMIM:606519
Cockayne Syndrome Type 3
Corneal ulceration, Lentiglobus, Retinal degeneration, Flexion contracture, Retinal hemorrhage, E... ORPHA:90324
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Weight loss, Male infertility ORPHA:85450
Complete Androgen Insensitivity Syndrome
Primary amenorrhea, Male infertility ORPHA:99429
Craniolenticulosutural Dysplasia
Osteopenia, Optic atrophy, Joint laxity, Posterior Y-sutural cataract, Punctate cataract OMIM:607812
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Primary amenorrhea, Azoospermia, Osteoporosis, Male infertility, ... ORPHA:251510
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Abnormality of the optic disc, Failure to thrive, Retinal dystrophy, Early o... ORPHA:397715
Bannayan-Riley-Ruvalcaba syndrome
Multiple lipomas, Abnormally prominent line of Schwalbe, Joint hypermobility, Lipoma, Pseudopapil... OMIM:153480
Norrie Disease
Abnormal vitreous humor morphology, Hypoplasia of the iris, Erectile dysfunction, Sclerocornea, C... ORPHA:649
Aicardi Syndrome
Hiatus hernia, Chorioretinal coloboma, Multiple lipomas, Block vertebrae, Abnormality of retinal ... ORPHA:50
Aicardi Syndrome
Hiatus hernia, Chorioretinal lacunae, Block vertebrae, Cataract, Retinal detachment, Lipoma, Opti... OMIM:304050
Partial Androgen Insensitivity Syndrome
Azoospermia, Male sexual dysfunction, Primary amenorrhea, Male infertility ORPHA:90797
Wolfram Syndrome
Joint stiffness, Abnormal autonomic nervous system physiology, Male hypogonadism, Optic atrophy, ... ORPHA:3463
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Male infertility, Small for gestational age OMIM:227650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Generalized joint laxity, Abnormality of the optic disc... ORPHA:508498
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Rheumatoid arthritis, Iritis, Papilledema OMIM:108050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Optic nerve hypoplasia, Abdominal obesity, Retinal dystrophy, Optic atrophy,... OMIM:619321
Stankiewicz-Isidor Syndrome
Abnormality of the optic disc OMIM:617516
Ramon Syndrome
Juvenile rheumatoid arthritis, Pigmentary retinopathy, Optic disc pallor, Decreased body weight OMIM:266270
Tubulointerstitial Nephritis And Uveitis Syndrome
Retinal vasculitis, Chorioretinal scar, Cystoid macular edema, Abnormality of retinal pigmentatio... ORPHA:91500
Cancer-Associated Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Retinal atrophy, Optic disc pallor, Foveal hyporefl... ORPHA:71505
45,X/46,Xy Mixed Gonadal Dysgenesis
Chordee, Azoospermia, Obesity, Male infertility, Streak ovary ORPHA:1772
Cystic Fibrosis
Failure to thrive, Male infertility OMIM:219700
Noonan Syndrome 1
Hypogonadism, Synovitis, Male infertility, Failure to thrive in infancy OMIM:163950
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the ovary OMIM:619665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Spidr

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 Spidr.

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

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MGI Allele Allele Type Produced
Spidrtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Spidrtm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Spidrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Spidrtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Spidrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Spidrtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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