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Gene: Abca4 MGI:109424

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
vertebral fusion Abca4tm1a(EUCOMM)Wtsi HOM Early adult 1.31×10-05

Download data as:  TSV  XLS

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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
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 0.72% (4 of 555)
aorta 0.18% (1 of 541)
blood vessel 0.0%
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyer's patch 0.63% (1 of 158)
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
uterus 0.37% (2 of 535)
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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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Legacy Phenotype Associated Images
Abca4tm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Abca4tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Abca4tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Abca4tm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI

View all 152 images

Abca4tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
eyelids fail to open, right eye, HOM, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
corneal opacity, HOM, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
abnormal epidermal pigmentation, HOM, Female, WTSI
Abca4tm1a(EUCOMM)Wtsi
abnormal epidermal pigmentation, HOM, Female, WTSI

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
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
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
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... OMIM:610017
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
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
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Optic atrophy, Cerebell... OMIM:610951
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... OMIM:613686
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion OMIM:122600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... OMIM:619389
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Sacral dimple OMIM:618845
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis OMIM:214300
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... OMIM:609813
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Short neck, Vertebral clefting OMIM:608681
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... OMIM:601344
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebral atrophy, Cerebellar atrophy OMIM:619090
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination OMIM:244600
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... ORPHA:2345
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion OMIM:615583
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:606612
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... ORPHA:3109
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... OMIM:203500
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion ORPHA:313892
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Kbg Syndrome
Vertebral fusion, Short neck, Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, ... ORPHA:2332
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Platyspondyly, Short neck, Biconcave vertebral bodies, Genu valgum, Intervertebral space narrowin... ORPHA:93315
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:312150
Kniest Dysplasia
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... ORPHA:485
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Gorlin Syndrome
Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion ORPHA:377
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... ORPHA:644
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... OMIM:253290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion OMIM:118100
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Aarskog-Scott Syndrome
Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of finger, Short neck,... ORPHA:915
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
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, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Tarsal synost... OMIM:263540
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in muscle tissue, Ectopic ... OMIM:135100
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Spondylocarpotarsal Synostosis Syndrome
Vertebral segmentation defect, Carpal synostosis, C2-C3 subluxation, Vertebral fusion, Short neck... OMIM:272460
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Craniosynostosis, Inc... OMIM:305620
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Kyphosis, Short neck, Hyperlordosis ORPHA:2522
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Iris coloboma, ... ORPHA:448237
Lateral Meningocele Syndrome
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Wormian bon... OMIM:130720
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Anisocoria OMIM:619649
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Block vertebrae, Vertebral fusion OMIM:271520
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
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, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Scoliosis, Hip dislocation, Vertebral fusion, Joint hype... ORPHA:96169
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation ORPHA:290
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Anterior vertebral fusion, Shoulder dislocation, Genu varum, Radioulnar synostosis, Elbow disloca... OMIM:171480
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... OMIM:151200
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Pterygium, Anterior clefting of vertebral bodies, Flexio... OMIM:265000
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy OMIM:613156
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Rod-cone dystrophy OMIM:268020
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:300578
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... ORPHA:1724
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... ORPHA:79264
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation... ORPHA:1493
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Mulibrey Nanism
Iris coloboma, Pigmentary retinopathy OMIM:253250
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermobility, Hip disloca... OMIM:610443
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Abnormal sensory nerve conduction velocity, Pigmentary r... ORPHA:88628
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis OMIM:612852
Robinow Syndrome, Autosomal Recessive 1
Dislocated radial head, Hypoplastic sacrum, Hemivertebrae, Vertebral fusion, Short neck, Scoliosi... OMIM:268310
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation and fusion, Ca... ORPHA:90652
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Craniosynostosis, Hyperextensibility of the finger joints, Hemiverte... OMIM:213980
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Basal Cell Nevus Syndrome
Kyphoscoliosis, Hemivertebrae, Vertebral fusion, Scoliosis, Irregular ossification of hand bones,... OMIM:109400
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation ORPHA:585
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Hip dislocati... ORPHA:3320
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Ectopia pupillae, Retinal thinning, Cone/cone-rod dystrophy,... ORPHA:85167
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Frontometaphyseal Dysplasia
Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand, Limitation of mov... ORPHA:1826
Kbg Syndrome
Vertebral fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, Delayed skeletal maturation OMIM:148050
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Freckling, Pigmentary retinopathy OMIM:610651
Microphthalmia, Syndromic 3
Hemivertebrae, Vertebral fusion, Vertebral hypoplasia, Butterfly vertebrae OMIM:206900
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta OMIM:619227
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Short neck OMIM:609053
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma ORPHA:2510
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... ORPHA:268882
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Duane Retraction Syndrome
Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the vertebral bodies, Sp... ORPHA:233
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Wormian bones OMIM:617159
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Myhre Syndrome
Joint stiffness, Platyspondyly, Short neck, Enlarged vertebral pedicles, Camptodactyly, Vertebral... OMIM:139210
Atelosteogenesis, Type I
Knee dislocation, Short neck, Fused cervical vertebrae, Vertebral hypoplasia, Coronal cleft verte... OMIM:108720
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Chorioreti... OMIM:618733
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Hyperextensible hand joints, Camptodactyly OMIM:227330
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Cohen Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Iris coloboma, Abnormality of skin pigmentati... ORPHA:193
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Neurodegeneration OMIM:309900
Simpson-Golabi-Behmel Syndrome
Vertebral segmentation defect, Accelerated skeletal maturation, Camptodactyly of finger, Congenit... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Generalized joint laxity, Shoulder subluxation, Short neck, Hypermobility of ... ORPHA:508498
Retinoblastoma
Abnormality of retinal pigmentation, Vitreous hemorrhage, Retinoblastoma, Heterochromia iridis, R... ORPHA:790
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... ORPHA:157850
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Aicardi Syndrome
Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis OMIM:304050
Werner Syndrome
White forelock, Premature graying of hair, Abnormality of retinal pigmentation ORPHA:902
Apert Syndrome
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Craniosynostosis, Coronal crani... OMIM:101200
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Coffin-Lowry Syndrome
Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation ORPHA:192
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy OMIM:240300
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Scoliosis ORPHA:50
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Duane-Radial Ray Syndrome
Fused cervical vertebrae, Spina bifida occulta, Scoliosis, Shoulder dislocation OMIM:607323
Chédiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decreased nerve conduction velocit... ORPHA:167
Wolf-Hirschhorn Syndrome
Kyphosis, Abnormal sternal ossification, Vertebral fusion, Scoliosis, Abnormal form of the verteb... OMIM:194190
Robinow Syndrome
Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebrae, Scoliosis, Radioulnar dislocation ORPHA:97360
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Retinal detachment, Retinal dystrophy, Optic at... ORPHA:2526
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Classic Homocystinuria
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation ORPHA:394
Alstrom Syndrome
Pigmentary retinopathy, Cone/cone-rod dystrophy OMIM:203800
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Pigmentary retinopathy, Optic atrophy... ORPHA:90321
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Brain atrophy, Atrophy of the spinal cord, Abnormal motor ne... ORPHA:466768
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:214100
Frontometaphyseal Dysplasia 2
Hip contracture, Dislocated radial head, Congenital hip dislocation, Scoliosis, Camptodactyly, Fu... OMIM:617137
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Scoliosis, Fused cervical vertebrae, Joint laxity, Tarsal synostosis, Joint hy... OMIM:157800
Bardet-Biedl Syndrome 1
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal dystrophy... OMIM:209900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopat... ORPHA:79282
Trisomy 18
Iris coloboma, Abnormality of retinal pigmentation ORPHA:3380
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Genu varum, Carpal bone hypoplasia, Fused cervical vertebrae, Patellar aplasia... OMIM:274000
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Cockayne Syndrome
Abnormality of retinal pigmentation, Decreased nerve conduction velocity, Cerebral atrophy, Retin... ORPHA:191
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Brain atrophy ORPHA:505248
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinal degeneration, Decreased ... ORPHA:580
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches, Retinal dystrophy, Abnormality o... ORPHA:2556
Neurodegeneration With Brain Iron Accumulation 1
Retinal degeneration, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Cerebral degenera... OMIM:234200
Melas
Cerebral cortical atrophy, Brain atrophy, Pigmentary retinopathy, Optic atrophy, Vitiligo ORPHA:550
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus ORPHA:14
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Pigmentary retinopathy OMIM:277400
Cockayne Syndrome A
Decreased nerve conduction velocity, Cerebral atrophy, Retinal pigment epithelial mottling, Pigme... OMIM:216400
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Mac... ORPHA:91500
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Lisch nodules, Generalized hyperpigmentation, Freckling, Het... ORPHA:636
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:255210
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Congenital hip dislocation, Absence of the sacrum OMIM:306955
Mucopolysaccharidosis Type 3
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Central nervous ... ORPHA:581
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord OMIM:607459
Cockayne Syndrome B
Cerebral atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Hyp... OMIM:133540
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Retinopathy, Optic ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Retinopathy, Optic ... ORPHA:217093
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebral atrophy, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic atrophy, Optic disc pall... ORPHA:404454
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Pigmentary retinopathy OMIM:309801
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Contracture of the distal interphalangeal joint of the fingers, Cleft v... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... ORPHA:444077
Proteus Syndrome
Abnormality of retinal pigmentation, Irregular hyperpigmentation, Retinal nonattachment, Generali... ORPHA:744
Cystinosis, Nephropathic
Cerebral atrophy, Retinal pigment epithelial mottling, Retinopathy, Hypopigmentation of the skin,... OMIM:219800
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration, Patchy hypo- and hyperpigmentation, Wh... ORPHA:79474
Pearson Syndrome
Cafe-au-lait spot, Hyperpigmentation of the skin, Pigmentary retinopathy ORPHA:699
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... ORPHA:51608
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion OMIM:211380
Craniofacial Microsomia
Hemivertebrae, Scoliosis, Genu valgum, Vertebral hypoplasia, Block vertebrae OMIM:164210
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pigmentary retinopathy OMIM:606721
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia 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