Gene Summary

Name:
ATP-binding cassette, sub-family A (ABC1), member 4
Synonyms:
D430003I15Rik,  Abc10,  RmP,  Rim protein

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
vertebral fusion Abca4tm1a(EUCOMM)Wtsi HOM Early adult 1.31×10-05

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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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel 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 Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
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 tissue 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 Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 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

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Legacy Phenotype Associated Images

View all 152 images

Human diseases caused by Abca4 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 predicted to be associated to Abca4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... OMIM:610017
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Antecubital pterygium, Fused cervical vertebrae, Short neck, Flexion contractu... OMIM:618469
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 7
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:608133
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 2
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Retinopathy, Pigmentary retinopathy, Cerebr... OMIM:610951
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Spina bifi... OMIM:613686
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short neck, Scoliosis, Low back pain OMIM:122600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinal Detachment
Retinal detachment OMIM:180050
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... OMIM:178110
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... OMIM:604116
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atr... OMIM:619389
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Leber Congenital Amaurosis 2
Fundus atrophy, Pigmentary retinopathy OMIM:204100
Retinitis Pigmentosa 83
Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e... OMIM:618173
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Brachydactyly, Type B1
Vertebral fusion, Hemivertebrae, Joint contracture of the hand, Hypoplastic sacrum, Camptodactyly... OMIM:113000
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613810
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae OMIM:214300
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae OMIM:608681
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Spinal Dysplasia, Anhalt Type
Spinal dysplasia, Osteoarthritis of the small joints of the hand, Absent spinous processes of low... OMIM:601344
Keratoconus Posticus Circumscriptus
Short neck, Abnormal vertebral segmentation and fusion, Limited elbow extension and supination OMIM:244600
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... OMIM:602772
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... OMIM:605549
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... ORPHA:2345
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Hip dislocation, Short neck, Scoliosis OMIM:615583
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:606612
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613464
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... ORPHA:3109
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy OMIM:268100
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Leber Congenital Amaurosis 1
Fundus atrophy, Pigmentary retinopathy OMIM:204000
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Patellar disloc... ORPHA:2916
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Butterfly vertebrae, Vertebral fusion, Scoliosis, Lumbar hyperlordosis ORPHA:313892
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... ORPHA:816
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Delayed skeletal maturation, Short neck, Scoliosis, Persiste... ORPHA:2332
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Alkaptonuria
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... OMIM:203500
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Aganglionic megacolon, White eyelashes, White forelock, Abno... ORPHA:897
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Reduced bone mineral density, Intervertebral space narrowing, Vertebral fusion, Verte... ORPHA:93315
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:312150
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab... ORPHA:52427
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Gorlin Syndrome
Hemivertebrae, Scoliosis, Vertebral fusion, Vertebral wedging ORPHA:377
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae OMIM:184400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Increased susceptibility to fractures, Joint dislocation, Flexion contracture, ... OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis OMIM:607155
Kniest Dysplasia
Coronal cleft vertebrae, Vertebral wedging, Laryngotracheomalacia, Abnormal joint morphology, Del... ORPHA:485
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1445
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Corticospinal tract atrophy, Retinal pigment ep... ORPHA:644
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis OMIM:118100
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... OMIM:120970
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Aarskog-Scott Syndrome
Abnormal vertebral segmentation and fusion, Abnormality of the cervical spine, Genu recurvatum, C... ORPHA:915
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Acetabular dysplasia, Short neck, Thoracolu... OMIM:616549
Kbg Syndrome
Vertebral arch anomaly, Thoracic kyphosis, Vertebral fusion, Delayed skeletal maturation OMIM:148050
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Spinal canal stenosis, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Hypopl... OMIM:263540
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Progressive cervi... OMIM:135100
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Decreased sensory nerve conduction velocity, Bone spicule ... OMIM:609033
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, Partial fusion of carpals, K... OMIM:305620
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis ORPHA:2522
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Retinopathy, Chorioretina... ORPHA:5
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Sclerosis of skull base, Wormian bones, Kyphosis, J... OMIM:130720
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Hypoplasia of the odontoid process, Vertebral fusion, Capitate-hamate fusion, ... OMIM:272460
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis OMIM:271520
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Carpal synostosis, Delayed skeletal maturation, Syno... OMIM:157800
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... OMIM:615986
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan... ORPHA:2481
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris ORPHA:290
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pigmentary retinopathy OMIM:606721
Caudal Regression Sequence
Abnormal vertebral segmentation and fusion, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebr... ORPHA:3027
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hip dislocation, Vertebral segmentation defect, Scoliosis, Joint hype... ORPHA:96169
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Anterior vertebral fusion, Elbow dislocation, Radioulnar synost... OMIM:171480
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Vertebral hypoplasia OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy OMIM:613156
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Retinal degeneration, Pigmentary retinopathy, Cerebral atr... ORPHA:79264
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Zika Virus Disease
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... ORPHA:448237
Joubert Syndrome 3
Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Mosaic Trisomy 20
Limited pronation/supination of forearm, Spinal canal stenosis, Vertebral fusion, Kyphosis, Fused... ORPHA:1724
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Vici Syndrome
Abnormal macular morphology, Optic atrophy, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:1493
Multiple Pterygium Syndrome, Escobar Variant
Dysplastic patella, Popliteal pterygium, Intercrural pterygium, Patellar aplasia, Neck pterygia, ... OMIM:265000
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Mulibrey Nanism
Iris coloboma, Pigmentary retinopathy OMIM:253250
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta... ORPHA:2715
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Joint hypermobility, Hip dislocation, Sacral dimple, Spondylolisthesi... OMIM:610443
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino... OMIM:560000
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of the retina, Rod-cone dys... ORPHA:88628
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Carpal... ORPHA:90652
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae ORPHA:94095
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Osteopenia, Joint swelling, Osteolysis OMIM:612852
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Vertebral fusion, Hemivertebrae, Vertebral wedging, Kyphosc... OMIM:109400
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Thoracolumbar scoliosis, Hypoplastic sacrum, Thoracic hemivertebrae, Delayed sk... OMIM:268310
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Genu varum, Fused cervical vertebrae, Hip dislocation, Patella... ORPHA:3320
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation ORPHA:585
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Ectopia pupillae, Cone/co... ORPHA:85167
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy OMIM:610651
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Limitation of movement at ankles, Sclerosis of skull... ORPHA:1826
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M... ORPHA:1969
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae OMIM:619227
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... ORPHA:268882
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma ORPHA:2510
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:214110
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Abnormal form of the vertebral bodies, Camptodactyly,... ORPHA:233
Atelosteogenesis, Type I
Knee dislocation, Coronal cleft vertebrae, Fused cervical vertebrae, Vertebral hypoplasia, Thorac... OMIM:108720
Myhre Syndrome
Vertebral fusion, Platyspondyly, Enlarged vertebral pedicles, Limitation of joint mobility, Campt... OMIM:139210
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Abnormality of retinal pigmentation, Papilledema OMIM:309900
Thakker-Donnai Syndrome
Short neck, Cervical C2/C3 vertebral fusion, Hemivertebrae ORPHA:1780
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Retinal pigment epithelial mottling, Chorioretinal lacunae, ... OMIM:618733
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Vertebral fusion, Camptodactyly OMIM:227330
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Accelerated skeletal matur... ORPHA:373
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin ... ORPHA:193
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Retinoblastoma
Retinal calcification, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrh... ORPHA:790
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Generalized joint laxity, Fused cervical vertebrae, Hip dislocation, Cervical hemivertebrae, Thor... ORPHA:508498
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Block vertebrae OMIM:304050
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:192
Craniofacial Microsomia
Vertebral hypoplasia, Hemivertebrae, Block vertebrae OMIM:164210
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal flecks, Rod-cone dystrophy, ... ORPHA:157850
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Block vertebrae ORPHA:50
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy, Decreased nerve conduction velocity, Hyp... ORPHA:167
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Synostosis of carpal bones, Coronal craniosynostosis, Delayed cr... OMIM:101200
Robinow Syndrome
Hemivertebrae, Kyphoscoliosis, Radioulnar dislocation, Fused thoracic vertebrae, Scoliosis ORPHA:97360
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Wolf-Hirschhorn Syndrome
Vertebral fusion, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Kyphosis,... OMIM:194190
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar aplasia, Fused cervical vertebrae, Hip dislocation, Carpal synostosis, Patel... OMIM:274000
Werner Syndrome
White forelock, Abnormality of retinal pigmentation, Premature graying of hair ORPHA:902
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Retinal dyspl... ORPHA:2526
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Retinal degeneration, Pigmentary retinopathy ORPHA:99
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy ORPHA:394
Duane-Radial Ray Syndrome
Spina bifida occulta, Scoliosis, Fused cervical vertebrae OMIM:607323
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Pigmentary retinopathy OMIM:214100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Cerebellar atrophy, Decreased distal sensory nerve action po... ORPHA:466768
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Pigmentary retinopathy, Abnormality of periph... ORPHA:90321
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Frontometaphyseal Dysplasia 2
Hip contracture, Dislocated radial head, Congenital hip dislocation, Fused cervical vertebrae, Ca... OMIM:617137
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Retinal degeneration, Atrophy of the spinal cord, Macular coloboma, Abnormality of... ORPHA:79282
Trisomy 18
Abnormality of retinal pigmentation, Iris coloboma ORPHA:3380
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Brain atrophy ORPHA:505248
Cockayne Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Cerebellar atrophy, Pigmen... ORPHA:191
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Decreased nerve conduct... ORPHA:580
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Cerebral degeneration, Retinal degeneration, Global brain atrophy, Neurodegenerati... OMIM:234200
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormality of retinal pigmentation, Retinal dysplasia, Abnormality o... ORPHA:2556
Melas
Optic atrophy, Vitiligo, Brain atrophy, Pigmentary retinopathy, Cerebral cortical atrophy ORPHA:550
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy ORPHA:14
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Pigmentary retinopathy OMIM:277400
Neurofibromatosis Type 1
Hypopigmented skin patches, Abnormality of retinal pigmentation, Chorioretinal coloboma, Generali... ORPHA:636
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Choroidal neovascularization, Chorioretinal scar, Macular ed... ORPHA:91500
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Pigmentary retinopathy OMIM:309801
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of skin pigmentation, Retinal pig... OMIM:216400
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Hypoplasia of the iris, Abnormality of skin p... OMIM:133540
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Abnormality of retinal pigmentation, Papilledema, Retinopathy, Abnormal foveal mor... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Abnormality of retinal pigmentation, Papilledema, Retinopathy, Abnormal foveal mor... ORPHA:217093
Mucopolysaccharidosis Type 3
Central nervous system degeneration, Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Pig... ORPHA:581
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, C... ORPHA:404454
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of the skin, Retinopathy, Pigmentary retino... OMIM:219800
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Cancer-Associated Retinopathy
Optic atrophy, Optic disc pallor, Granular macular appearance, Vitritis, Retinal pigment epitheli... ORPHA:71505
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Cleft vertebral arch, Contracture of the distal interphalangeal joint o... ORPHA:83617
Proteus Syndrome
Abnormality of retinal pigmentation, Retinal nonattachment, Chorioretinal coloboma, Generalized h... ORPHA:744
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Wormian bones, Hip subluxation, T... ORPHA:444077
Pearson Syndrome
Cafe-au-lait spot, Hyperpigmentation of the skin, Pigmentary retinopathy ORPHA:699
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration, White forelock, Patchy hypo- and hyper... ORPHA:79474
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Abnormal hip joint morphology, Stippled calcification... ORPHA:51608
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy ORPHA:3455

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 Abca4

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 Abca4.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Abca4tm1a(EUCOMM)Wtsi Abca4tm1a(EUCOMM)Wtsi