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Gene: Pde6a MGI:97524

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Gene Summary

Name:
phosphodiesterase 6A, cGMP-specific, rod, alpha
Synonyms:
Pdea

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
abnormal heart morphology Pde6aem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Pde6aem1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/ hair morphology Pde6aem2(IMPC)Mbp HOM Early adult 1.64×10-06
increased circulating phosphate level Pde6aem1(IMPC)Mbp HOM Early adult 2.30×10-05
abnormal eye morphology Pde6aem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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Histopathology

Images

5 Images

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Human diseases caused by Pde6a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pde6a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... ORPHA:791
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810

The table below shows human diseases predicted to be associated to Pde6a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy OMIM:603649
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... OMIM:619531
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy OMIM:180020
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy OMIM:610381
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Increased... OMIM:204500
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy OMIM:601553
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Cerebellar vermis atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... OMIM:608161
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cerebral atrophy, Macular degeneration, Increased neuronal autofluorescent lipopig... OMIM:204200
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization OMIM:608895
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Cerebral atrophy, Macular degeneration, Increased neuronal autofluorescent lipopig... OMIM:256730
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Nephronophthisis 15
Retinal degeneration OMIM:614845
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Nephronophthisis 14
Retinal degeneration OMIM:614844
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy OMIM:275400
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Retinal degeneration, ... OMIM:256731
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Pigmentary retinopathy ORPHA:3363
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy OMIM:600790
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:617406
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy OMIM:605808
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:252650
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Cerebral cortical atrophy OMIM:300438
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Coloboma Of Macula
Macular coloboma OMIM:120300
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Nephronophthisis 9
Retinal degeneration OMIM:613824
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Neuronal loss in central nervous system, Retinal atrophy, Cerebellar atrophy, I... OMIM:610127
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Macular degeneration, Retinal degeneration, Degeneration of the latera... OMIM:604360
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Retinitis Pigmentosa 23
Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e... OMIM:300424
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Sjogren-Larsson Syndrome
Macular dots, Retinal thinning, Macular degeneration, Macular crystals, Retinal pigment epithelia... OMIM:270200
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Macular degeneration, Choroidal neovascularization ORPHA:404451
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration OMIM:616896
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Macular coloboma, Geographic atrophy, Brain atrophy, Abnormal auditory evoked p... OMIM:619260
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti... OMIM:615986
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Late-Onset Retinal Degeneration
Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d... ORPHA:67042
Aceruloplasminemia
Retinal degeneration OMIM:604290
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy OMIM:620422
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy, Retinal degeneration, Optic disc pa... ORPHA:79264
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Bardet-Biedl Syndrome 17
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ... OMIM:615994
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Hsd10 Disease, Infantile Type
Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Neuro... ORPHA:391428
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Brain atrophy, Retinal degeneration, Cerebral atrophy ORPHA:442835
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Cardiomyocyte mitochond... ORPHA:423
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... ORPHA:791
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cerebellar atrophy OMIM:619780
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Scheie Syndrome
Retinal degeneration OMIM:607016
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy OMIM:212550
Leber Congenital Amaurosis 15
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... OMIM:613843
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration, Neurodegeneration ORPHA:79244
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Cerebellar atrophy ORPHA:284289
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... OMIM:601777
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration OMIM:620646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia OMIM:239000
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Chorioretinal coloboma, Optic disc coloboma OMIM:602499
Nephronophthisis 11
Retinal degeneration OMIM:613550
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium ORPHA:436245
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Cerebellar atrophy, Corpus callosum atrophy ORPHA:168491
Multiple Sulfatase Deficiency
Cerebral atrophy, Retinal degeneration, Cerebellar atrophy OMIM:272200
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis, Neurofibrillary tangles OMIM:619132
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Retinal degeneration, Rod-cone dystrophy ORPHA:166035
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration ORPHA:168549
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Pseudoxanthoma Elasticum
Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr... OMIM:264800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Hyperalaninemia, Hyperprolinemia OMIM:619064
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Aceruloplasminemia
Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation ORPHA:48818
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Werner Syndrome
Retinal degeneration OMIM:277700
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Parietal cortical atrophy, Retinal atrophy, Cerebellar atrophy, Corpus callosum atrophy ORPHA:412057
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pallidal degeneration, Bull's eye maculopathy, Retinal degeneration, Retinal fleck... ORPHA:157850
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... OMIM:300280
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Cardiomegaly OMIM:614702
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating... OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Senior-Loken Syndrome 8
Rod-cone dystrophy, Macular atrophy, Retinal dystrophy OMIM:616307
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ... ORPHA:85167
Colchicine Poisoning
Myocarditis, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal ... ORPHA:31824
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H... ORPHA:85451
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Retinal degeneration, Cerebellar atrophy, Corpus callosum atrophy OMIM:248500
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage OMIM:177850
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Frontal cortical atrophy, Atrophy of the spinal cord, Cerebral cortical ... ORPHA:2822
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor... OMIM:209900
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Macular degeneration, Cerebellar cortical atrophy, Abnormal au... ORPHA:247234
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Cardiomegal... OMIM:235200
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:608940
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Papillorenal Syndrome
Retinal detachment, Macular degeneration, Chorioretinal atrophy, Retinal coloboma, Optic disc col... OMIM:120330
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Abnormal fundus morphology, Macular degeneration, Cerebellar atrophy, Cone/cone... ORPHA:94147
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hepatomegaly, Hypophosphatemia OMIM:605911
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Neurofibrillary tangles, Neurodegeneration OMIM:610217
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Kniest Dysplasia
Retinal detachment, Vitreoretinopathy, Lattice retinal degeneration, Degenerative vitreoretinopat... ORPHA:485
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemic rickets, Hepatosplenomegaly, Hypopho... OMIM:307800
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Hypophosphatemia, Splenomegaly OMIM:239200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Hypophosphatemia OMIM:616026
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... OMIM:620609
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... ORPHA:42
Hurler Syndrome
Retinal degeneration, Neurodegeneration OMIM:607014
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypocalcemic Vitamin D-Dependent Rickets
Hepatomegaly, Hypocalcemic seizures, Hypocalcemia, Cardiomyopathy, Hypophosphatemia, Splenomegaly ORPHA:289157
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Cerebral atrophy, Abnormality of macular pigmentation, Atrophy o... ORPHA:79282
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Global brain atrophy, Cerebral degeneration, Retinal degeneration, Neurodegenerati... OMIM:234200
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... OMIM:201475
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Diffuse cerebella... ORPHA:71505
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Hippocampal atrophy, Senile plaques, Neurofibrillary tangles OMIM:608907
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Fanconi-Bickel Syndrome
Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubine... OMIM:227810
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Retinal atrophy OMIM:236670
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Senile plaques, Neurofibrillary tangles DECIPHER:48
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... OMIM:617713
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Trichothiodystrophy
Cerebral cortical atrophy, Macular degeneration, Retinal degeneration, Diffuse cerebellar atrophy ORPHA:33364
Cockayne Syndrome Type 3
Retinal dystrophy, Brain atrophy, Retinal atrophy, Retinal hemorrhage, Retinal degeneration, Abno... ORPHA:90324
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Senile plaques, Neurofibrillary tangles OMIM:605055
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Hypophosphatemia ORPHA:2088
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Mucopolysaccharidosis Type 3
Optic atrophy, Central nervous system degeneration, Retinal degeneration, Rod-cone dystrophy, Pig... ORPHA:581
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Retinal dysplasia, Retinal atrophy, Hypoplasia of the retina, Retinal degeneration OMIM:253280
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia ORPHA:469
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi... ORPHA:580
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Abnormality of iron homeostasis, Cardiomyopathy, Splenomegaly, Cardiomegaly, Increa... ORPHA:465508
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Cockayne Syndrome
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Retinal ... ORPHA:191
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Neurofibrillary tangles, Abnormal autonomic nervous system physiology OMIM:616840
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Farber Disease
Macular degeneration, Brain atrophy, Cherry red spot of the macula ORPHA:333
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration OMIM:618886
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating creatinine concentration, Elevated circulatin... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration,... ORPHA:228308
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Pearson Syndrome
Hepatomegaly, Hypokalemia, Hypocalcemia, Cardiomyopathy, Hyperalaninemia, Abnormal heart morpholo... ORPHA:699
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal a... OMIM:216400
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Choroideremia, Reti... ORPHA:1435
Dent Disease 1
Hypophosphatemia OMIM:300009
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy ORPHA:97297
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Hypocalcemia, Hypophosphatemia, Splenomegaly, Abnormal pulmonary valve morphology ORPHA:667
Cystinosis, Nephropathic
Hepatomegaly, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circu... OMIM:219800
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Say-Barber-Miller Syndrome
Optic atrophy, Macular degeneration, Rod-cone dystrophy ORPHA:3132
Opsismodysplasia
Hypophosphatemia OMIM:258480
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Cranial nerve compression, Retinal atrophy, Abnormal retinal morphology ORPHA:2785
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:614921
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy ORPHA:268
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Raine Syndrome
Hypophosphatemia OMIM:259775
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Fructose Intolerance, Hereditary
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles OMIM:607822
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macular degeneration, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal dystrophy OMIM:266920
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Atypical Werner Syndrome
Retinal degeneration, Abnormality of retinal pigmentation ORPHA:79474
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Hyperbilirubinemia, A... ORPHA:14
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neuronal loss in central nervous system, Neurofibrillary tangles OMIM:607485
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... OMIM:602782
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Neurofibrillary tangles ORPHA:1020
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles OMIM:606688
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Vici Syndrome
Hypopigmentation of the fundus, Macular atrophy, Macular hypoplasia, Ocular albinism OMIM:242840
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Gerstmann-Straussler Disease
Cerebellar atrophy, Neurofibrillary tangles OMIM:137440
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ... OMIM:252500
Alzheimer Disease 4
Senile plaques, Neurofibrillary tangles OMIM:606889
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Hepatosplenomegaly, Cardi... OMIM:618278
Niemann-Pick Disease, Type C1
Neuronal loss in central nervous system, Neurofibrillary tangles OMIM:257220
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Stickler Syndrome
Retinal detachment, Retinal hole, Lattice retinal degeneration, Abnormal vitreous humor morphology ORPHA:828
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Liver Disease, Severe Congenital
Left atrial enlargement, Increased circulating ferritin concentration, Hepatomegaly, Hypocalcemia... OMIM:619991
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Macular atrophy OMIM:619418
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Splenome... OMIM:620376
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale OMIM:620371
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Senile plaques, Neuronal loss in central nervous system, Granulovacuolar degene... OMIM:601104
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Niemann-Pick Disease, Type C2
Neurofibrillary tangles OMIM:607625
Adult-Onset Dystonia-Parkinsonism
Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia, Neurofibrillary tangles ORPHA:199351
Supranuclear Palsy, Progressive, 2
Neuronal loss in central nervous system, Granulovacuolar degeneration, Neurofibrillary tangles OMIM:609454
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:256040
Williams Syndrome
Abnormal endocardium morphology, Abnormal circulating lipid concentration, Cardiomegaly, Elevated... ORPHA:904
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Elevated... ORPHA:116
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles OMIM:117300
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect ORPHA:3472
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Ventricular hypertrophy, Pericardial effusion, Cardiomegaly, Myocardial... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Alström Syndrome
Drusen, Retinal dystrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Optic dis... ORPHA:64

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term atrophy Pde6aem1(IMPC)Mbp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pde6a.

No publications found that use IMPC mice or data for Pde6a.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pde6aem2(IMPC)Mbp Indel Mice, Tissue
Pde6aem1(IMPC)Mbp Exon Deletion Mice, Tissue

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