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Gene: Elovl4 MGI:1933331

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Gene Summary

Name:
ELOVL fatty acid elongase 4
Synonyms:
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4

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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
embryonic lethality prior to organogenesis Elovl4tm2b(EUCOMM)Hmgu HOM   E9.5 0.00
decreased exploration in new environment Elovl4tm2b(EUCOMM)Hmgu HET Early adult 2.31×10-06

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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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Elovl4 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 Elovl4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease
Color vision defect, Macular degeneration, Abnormality of macular pigmentation, Retinal pigment e... ORPHA:827
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular dystrophy, Macular atrophy, Visual impairment OMIM:600110
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Death in childhood, Scaling skin, Hyperkeratosis OMIM:614457
Spinocerebellar Ataxia Type 34
Dry skin, Papule, Macule ORPHA:1955
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190

The table below shows human diseases predicted to be associated to Elovl4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Persistent Placoid Maculopathy
Choroidal neovascularization, Scintillating scotoma, Retinal pigment epithelial mottling, Abnorma... ORPHA:97341
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:612712
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Dyschromatopsia, Retinal pigment epithelial mottling, Hypopigment... ORPHA:75377
Choroideremia
Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Cons... OMIM:303100
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Bone spicule pigmentation of the retin... OMIM:613809
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Cleft Lip-Retinopathy Syndrome
Retinopathy, Visual impairment, Abnormality of retinal pigmentation ORPHA:1995
Sorsby Pseudoinflammatory Fundus Dystrophy
Pigmentary retinopathy, Choroidal neovascularization, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1871
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Bone spicule pigmentation o... OMIM:607476
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy, Nyctalopia, Visual impairment OMIM:613758
X-Linked Retinal Dysplasia
Retinal dysplasia, Visual impairment, Abnormal retinal vascular morphology, Abnormality of retina... ORPHA:1852
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 96
Retinal thinning, Constriction of peripheral visual field, Reduced visual acuity, Bone spicule pi... OMIM:620228
Retinitis Pigmentosa 73
Color vision defect, Geographic atrophy, Constriction of peripheral visual field, Epiretinal memb... OMIM:616544
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Retinal flecks, Cone/cone-rod dystrophy, Macular atr... OMIM:603649
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:613582
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Nyctalopia, Pho... OMIM:600852
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Retinitis Pigmentosa 68
Visual field defect, Reduced visual acuity, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:615725
Stargardt Disease
Color vision defect, Macular degeneration, Abnormality of macular pigmentation, Retinal pigment e... ORPHA:827
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Blin... OMIM:613750
Retinitis Pigmentosa 76
Retinal thinning, Constriction of peripheral visual field, Hyperautofluorescent macular lesion, P... OMIM:617123
Bothnia Retinal Dystrophy
Large central visual field defect, Color vision defect, Pigmentary retinopathy, Macular degenerat... ORPHA:85128
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ... ORPHA:3406
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ny... OMIM:613428
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Retinitis Pigmentosa 92
Pigmentary retinopathy, Constriction of peripheral visual field, Paracentral scotoma, Nyctalopia,... OMIM:619614
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:614180
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:620102
Blue Cone Monochromatism
Photophobia, Blue cone monochromacy, Visual impairment, Abnormality of retinal pigmentation ORPHA:16
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Constriction of peripheral visual field, Cone/cone-rod dystr... OMIM:610478
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Best Vitelliform Macular Dystrophy
Color vision defect, Cystoid macular degeneration, Metamorphopsia, Choroideremia, Visual field de... ORPHA:1243
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular dystrophy, Macular atrophy, Visual impairment OMIM:600110
Retinitis Pigmentosa 4
Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, Visual field defect, Red... OMIM:613731
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis OMIM:617571
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Dermoodontodysplasia
Dry skin, Thin skin OMIM:125640
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Visual impairment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Bone spicule pigmentation of the retina, Progres... OMIM:617781
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:606068
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:601718
Diffuse Palmoplantar Keratoderma, Bothnian Type
Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer ORPHA:2337
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Acantholysis, Edema, Thin skin ORPHA:455
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Peripheral visual field loss, Chorio... OMIM:618697
Retinitis Pigmentosa 2
Pigmentary retinopathy, Constriction of peripheral visual field, High myopia, Bull's eye maculopa... OMIM:312600
Retinitis Pigmentosa 48
Macular degeneration, Visual impairment, Rod-cone dystrophy OMIM:613827
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Reduced visual acuity, Amblyopia, Retinal pigment epithelial mott... OMIM:300814
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Reduc... OMIM:614500
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Visual field defect, Reduced visual acuity, Macular dystrophy, ... OMIM:153840
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Vibratory Urticaria
Facial erythema, Dermatographic urticaria, Flushing, Urticaria OMIM:125630
Nanophthalmos
High hypermetropia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Cone-Rod Dystrophy 3
Color vision defect, Pigmentary retinopathy, Peripheral visual field loss, Visual loss, Central s... OMIM:604116
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Hypermetropia, Bone spicule pigmentation of ... OMIM:172870
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 9
Macular edema, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, ... OMIM:180104
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis ORPHA:735
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Color vision defect, Abnormality of vision, Iris hypopigmentati... ORPHA:99000
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule pigmentatio... OMIM:618220
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Pruritus, Recurrent skin infections, Hyperkeratosis ORPHA:454
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Reduced visual... OMIM:618826
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Congenital stationary night blindness with abnormal fundus... ORPHA:215
Retinitis Pigmentosa 40
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613801
Prolonged Electroretinal Response Suppression 1
Color vision defect, Difficulty adjusting to changes in luminance, Bradyopsia, Abnormal fundus mo... OMIM:608415
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Skin rash, Diffuse telan... ORPHA:280779
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... OMIM:608161
Bornholm Eye Disease
Protanopia, High myopia, Abnormality of retinal pigmentation, Amblyopia, Deuteranopia, Optic nerv... OMIM:300843
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R... OMIM:610951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Leber Congenital Amaurosis 9
Color vision defect, Optic atrophy, Retinal pigment epithelial mottling, Ultra-low vision, Ultra-... OMIM:608553
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Skin vesicle, Palm... ORPHA:64745
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous dermatitis, Palmoplan... ORPHA:158673
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri... ORPHA:87503
Retinitis Pigmentosa 6
Pigmentary retinopathy, Constriction of peripheral visual field, Chorioretinal degeneration, Rod-... OMIM:312612
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Constriction of peripheral visual field, Retinal degeneratio... OMIM:618144
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Pruritus, Follicular hyperkeratosis ORPHA:79100
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Mastocytosis, Cutaneous
Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria OMIM:154800
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy OMIM:551500
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Pruritus, Cutaneous photosensitivity ORPHA:33314
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Reduced visual acuity, Optic disc drusen, Bone spicule pigme... OMIM:611040
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Atypical scarring of skin, Petechiae, Thin skin OMIM:225310
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule ORPHA:409
Peeling Skin Syndrome 3
Erythema, White scaling skin, Pruritus OMIM:616265
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Erythrode... OMIM:620507
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Skin rash, Thin skin ORPHA:1658
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Hemiano... ORPHA:284454
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Sub-RPE de... OMIM:605670
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Acrogeria
Small hand, Skin ulcer, Micrognathia, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Sh... ORPHA:2500
Cutaneous Photosensitivity And Colitis, Lethal
Erythema, Early cutaneous photosensitivity, Death in infancy OMIM:219095
Hydroa Vacciniforme
Papulovesicular eruption, Erythema, Eczematoid dermatitis, Malar rash, Hydroa vacciniforme, Super... ORPHA:330058
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, White papule, ... ORPHA:498359
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Hypermetropia OMIM:268060
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin ORPHA:743
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Peripheral visual field loss, Attenuation of retina... OMIM:612095
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Bone spicule pig... OMIM:615233
Retinitis Pigmentosa 83
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:618173
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:617304
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:600105
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, Reduced visual acuity, F... OMIM:204100
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Thin skin ORPHA:745
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Corpus callos... OMIM:619389
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone sp... OMIM:613617
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Nevus, Failure to thrive, Atrophic scars, Milia, Palmoplantar hyperkeratosis, Aplas... ORPHA:89838
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Reduced visual... OMIM:618195
Retinitis Pigmentosa 46
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:612572
Classic Mycosis Fungoides
Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkeratosis, Edema ORPHA:2584
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule ORPHA:1962
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cerebral atrophy, Abnormality of retinal pigmentation, Retinal detachment, Abnormal... OMIM:251270
Macular Dystrophy With Central Cone Involvement
High myopia, Bull's eye maculopathy, Central scotoma, Reduced visual acuity, Optic disc pallor, M... OMIM:616170
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:212360
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Peripheral visual field loss, Attenuation of retinal blo... OMIM:613983
Jalili Syndrome
Retinal pigment epithelial mottling, High hypermetropia, Scotoma, Attenuation of retinal blood ve... OMIM:217080
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone ... OMIM:613810
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Cutaneous Small Vessel Vasculitis
Erythema, Cutis marmorata, Skin rash, Recurrent skin infections, Purpura, Urticaria ORPHA:889
Pressure-Induced Localized Lipoatrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue ORPHA:90160
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis... ORPHA:79148
Retinitis Pigmentosa 10
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Bull's eye maculop... OMIM:180105
Ichthyosis, Annular Epidermolytic, 2
Erythema, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Scaling skin OMIM:620148
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Rod-... OMIM:613767
Panniculitis-Induced Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Vasculitis i... ORPHA:90159
Cone-Rod Dystrophy 6
Dyschromatopsia, Peripheral visual field loss, Attenuation of retinal blood vessels, Chorioretina... OMIM:601777
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Retinitis Pigmentosa 72
Constriction of peripheral visual field, High myopia, Attenuation of retinal blood vessels, Perip... OMIM:616469
Dermoodontodysplasia
Dry skin, Melanocytic nevus, Thin skin ORPHA:1660
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Blindness... OMIM:605549
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Intrauterine growth retardation, Micrognathia, Oligohydramnios, Skin dimple, T... ORPHA:261304
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Progres... OMIM:610283
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Weight loss, Erythroderma, Hyperkeratosis ORPHA:312
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Optic Atrophy 5
Slow decrease in visual acuity, Optic atrophy, Constriction of peripheral visual field, Abnormali... OMIM:610708
Retinitis Pigmentosa 51
Macular degeneration, High myopia, Attenuation of retinal blood vessels, Reduced visual acuity, B... OMIM:613464
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Constriction of peripheral visual field, Re... OMIM:611131
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema... ORPHA:281127
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Micrognathia, Genu valgum, Splenomegaly... ORPHA:742
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Broad femoral neck, Failure to thrive, Abnormal metaphysis morphology, Flat capital fe... ORPHA:157965
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Visual field defect, Reduced visual... OMIM:613581
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Retinitis Pigmentosa 25
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Chorioretinal atro... OMIM:602772
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, H... OMIM:619649
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis, Skin fragility with non-scarring blistering, Pruritus ORPHA:158681
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Facial erythema, Pruritus, Recurrent ... OMIM:603165
Erythrokeratodermia Variabilis
Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis, Cutaneous phot... ORPHA:317
Cutaneous Mastocytoma
Erythema, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, Angioedema, Telan... ORPHA:79455
Familial Cervical Artery Dissection
Striae distensae, Thin skin ORPHA:36382
Maculopapular Cutaneous Mastocytosis
Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Pruritus, Flu... ORPHA:79457
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Dry skin, Lack of skin elasticity ORPHA:384
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Skin vesicle, Hyperkeratosis ORPHA:2841
Vulvovaginal Gingival Syndrome
Erythema, Pruritus, Parakeratosis ORPHA:83453
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Fragile skin, Hyperkeratosis OMIM:615028
Fetal Encasement Syndrome
Upper limb undergrowth, Lower limb undergrowth, Thin skin OMIM:613630
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Pallor ORPHA:79283
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Silver-Russell Syndrome 2
Intrauterine growth retardation, Micrognathia, 2-3 toe syndactyly, Clinodactyly of the 5th finger... OMIM:618905
Jalili Syndrome
Color vision defect, Optic atrophy, Abnormality of retinal pigmentation, Photophobia, Visual impa... ORPHA:1873
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin... ORPHA:90158
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Constriction of peripheral visual field, Reduced visual acuity, ... OMIM:600132
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Milia, Dermal atrophy, Skin plaque, Pruritus, Subcutaneous nodule, Papule, Hyperk... ORPHA:89843
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Erythema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal edema ORPHA:100057
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hyperkeratosis OMIM:613943
Morning Glory Disc Anomaly
Retinal detachment, Amblyopia, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Dry skin, Broad thumb, Thin skin OMIM:617364
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Pseudoprogeria Syndrome
Decreased body weight, Failure to thrive, Thin skin ORPHA:2985
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Severe Early-Childhood-Onset Retinal Dystrophy
Reduced visual acuity, Retinal detachment, Optic disc pallor, Retinal pigment epithelial atrophy,... ORPHA:364055
Bullous Impetigo
Pustule, Erythema, Recurrent bacterial skin infections ORPHA:36237
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Peripheral visual field loss, Bone spicule pigmentation of ... OMIM:617023
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin OMIM:607602
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Finger syndactyly, Failure to thrive, Dry skin, Intrauterine gr... ORPHA:217346
Keratolytic Winter Erythema
Erythema OMIM:148370
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, Reduced visual acuity, O... OMIM:204000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Plantar hyperkeratosis, Milia, Hypomelanotic macule, Spotty hypopigmentati... ORPHA:79399
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Death in childhood, Bradykinesia OMIM:618683
Erythema Of Acral Regions
Erythema OMIM:227000
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Annular Erythema
Erythema OMIM:106500
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Parakeratosis, Pruritus, Hyperkeratosis OMIM:615821
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Progressive Nodular Histiocytosis
Cachexia, Subcutaneous nodule, Papule ORPHA:158022
Sjögren-Larsson Syndrome
Erythema, Hyperkeratosis, Dry skin, Urticaria ORPHA:816
Congenital Glaucoma
Retinal detachment ORPHA:98976
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Scaling skin ORPHA:263534
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Edema, Redundant neck skin, Neonatal death OMIM:610498
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Palmoplantar keratoderma, Lack of skin elasticity, Aplasia/Hypoplasia ... ORPHA:1366
Reticular Dysgenesis
Skin ulcer, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, Abnormality of neutrop... ORPHA:33355
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Weight loss, Macule, Pruritus ORPHA:703
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Peripheral vis... OMIM:145350
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczematoid dermatitis, Thin skin ORPHA:1810
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Webbed neck, Cigarette-paper scars, Broad femoral neck, Flared metaphysis, Camptodactyly of finge... OMIM:612350
Autosomal Erythropoietic Protoporphyria
Erythema, Eczematoid dermatitis, Pruritus, Cutaneous photosensitivity, Edema ORPHA:79278
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Pruritus, Hyperkeratosis OMIM:131850
Juvenile Hyaline Fibromatosis
Skin ulcer, Death in infancy, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule ORPHA:2028
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Photophobia, Constriction of peripheral visual field... OMIM:613843
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Skin vesicle, Pustule, Eryth... ORPHA:79481
Familial Cold Autoinflammatory Syndrome 3
Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Pruritus OMIM:614468
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Mycosis Fungoides
Erythema, Psoriasiform dermatitis, Eczematoid dermatitis, Pruritus OMIM:254400
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin OMIM:602723
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Central scotoma, Reduc... OMIM:617547
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Methylmalonic Acidemia With Homocystinuria
Lethargy, Skin rash ORPHA:26
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis, Nyctalopia, Hemeralopia OMIM:268100
Protoporphyria, Erythropoietic, 1
Erythema, Pruritus, Eczematoid dermatitis, Edema OMIM:177000
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Palmoplantar scaling skin, Death in early adulthood, Death in adolescen... OMIM:605676
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Narp Syndrome
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Ro... ORPHA:644
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Atrophic scars, Arachnodactyly, Long toe, Cutis laxa, Thin skin ORPHA:75496
Osseous Heteroplasia, Progressive
Osteoma cutis, Limb undergrowth OMIM:166350
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Obesity, Ecchymosis, Facial erythema, Abdominal obesity, Purpura, Edema, Thin skin OMIM:219090
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Death in childhood OMIM:618224
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Death in childhood, Scaling skin, Hyperkeratosis OMIM:614457
Transgrediens Et Progrediens Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Recurrent cutaneous fungal infections, Facial erythema, Palm... ORPHA:495
Arthrochalasia Ehlers-Danlos Syndrome
Avascular necrosis of the capital femoral epiphysis, Micrognathia, Coxa vara, Coxa valga, Thin skin ORPHA:1899
Cutis Laxa, Autosomal Recessive, Type Iiia
Failure to thrive, Intrauterine growth retardation, Talipes equinovarus, Cutis laxa, Adducted thu... OMIM:219150
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy, Visual impairment, Nyctalopia OMIM:600151
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Eczematoid dermatitis, Failure to thrive, Dry skin, Hyperkeratosis, Thin skin ORPHA:238468
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Retinal arteriolar constriction, Dyschromatopsia, Ab... OMIM:193220
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Nonimmune hydrops fetalis, Limb undergrowth, Small for gestational age, Thin skin OMIM:166210
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Necrobiosis Lipoidica
Erythema, Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia of the skin, Fragile skin ORPHA:542592
Glycine Encephalopathy 1
Lethargy, Death in infancy OMIM:605899
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Lichen Planopilaris
Skin ulcer, Hypopigmented skin patches, Dermal atrophy, Pruritus, Papule, Hyperkeratosis ORPHA:525
Familial Cold Urticaria
Erythema, Pruritus, Dehydration, Urticaria ORPHA:47045
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy, Type E brachydactyly OMIM:133690
Pulmonary Blastoma
Weight loss ORPHA:64741
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Finger... ORPHA:90280
Recon Progeroid Syndrome
Dry skin, Long thumb, Arachnodactyly, Thrombocytopenia, Scaling skin, Anemia, Proximal placement ... OMIM:620370
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Triphalangeal thumb, Aplasia cutis congenita, Short thumb ORPHA:79499
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Dry skin, Facial erythema, Follicular hyperkeratosis OMIM:308800
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Calcaneovalgus deformity, Thin skin OMIM:225320
Dermatitis Herpetiformis
Erythema, Eczematoid dermatitis, Skin vesicle, Pruritus, Edema, Urticaria ORPHA:1656
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... ORPHA:897
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:606545
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
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Interstitial Granulomatous Dermatitis With Arthritis
Erythema, Inflammatory abnormality of the skin, Pruritus ORPHA:79099
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae, Truncal obesity, Thin skin OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae, Truncal obesity, Thin skin OMIM:610475
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Evans Syndrome
Bruising susceptibility, Pallor, Petechiae, Lethargy, Jaundice ORPHA:1959
Leishmaniasis
Skin ulcer, Pancytopenia, Leukopenia, Pallor, Abnormal macrophage morphology, Splenomegaly, Anemi... ORPHA:507
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Centrifugal Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Lack of faci... ORPHA:90156
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinitis Pigmentosa
Optic atrophy, Peripheral visual field loss, Blindness, Attenuation of retinal blood vessels, Abn... ORPHA:791
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis, Thin skin OMIM:607823
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema OMIM:615907
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Moderate myopia, Constriction of peripheral visual field, ... OMIM:300578
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Keloids, Failure to thrive, Dermal atrophy, Micrognathia, Tibial ... OMIM:601812
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Psoriasis 14, Pustular
Pustule, Erythema, Psoriasiform dermatitis, Parakeratosis OMIM:614204
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Sydenham Chorea
Erythema ORPHA:306731
Choroidal Atrophy-Alopecia Syndrome
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation ORPHA:1433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Diaphyseal undertub... OMIM:601559
Short Syndrome
Radial deviation of finger, Clinodactyly, Premature skin wrinkling, Intrauterine growth retardati... OMIM:269880
Dowling-Degos Disease
Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Acne inversa, Hyperpigm... ORPHA:79145
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Nyctalopia,... ORPHA:5
C1Q Deficiency 2
Discoid lupus rash, Malar rash, Chilblains, Facial erythema, Vasculitis in the skin OMIM:620321
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Micrognathia, Weight loss ORPHA:141152
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Polyhydramnios, Aplasia cutis congenita, Neonatal death OMIM:612138
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Atrophic scars, Milia, Scarring alopecia of scalp, Aplasia cutis congen... ORPHA:79402
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Chronic Hiccup
Weight loss, Dehydration ORPHA:396
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Periventricular Nodular Heterotopia
Thin skin ORPHA:98892
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Nodular Non-Suppurative Panniculitis
Erythema, Aplasia/Hypoplasia of the skin, Weight loss, Subcutaneous nodule, Edema ORPHA:33577
Cutis Laxa, Autosomal Recessive, Type Iiib
Intrauterine growth retardation, Excessive wrinkled skin, Cutis laxa, Dermal translucency, Thin skin OMIM:614438
Retinitis Pigmentosa 74
Pigmentary retinopathy, Constriction of peripheral visual field, Reduced visual acuity, Rod-cone ... OMIM:616562
Adult Syndrome
Toe syndactyly, Eczematoid dermatitis, Dermal atrophy, Dry skin, Split hand, Split foot, Thin skin OMIM:103285
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Dehydration ORPHA:28
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Epidermolysis Bullosa, Junctional 1B, Severe
Failure to thrive, Atrophic scars, Milia, Death in infancy, Congenital localized absence of skin OMIM:226700
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intrauterine growth retardation, Genu valgum, Metaphyseal sclerosis, Bowing of the long bones, Th... OMIM:612199
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Cyanosis ORPHA:71277
Adult Syndrome
Toe syndactyly, Finger syndactyly, Skin ulcer, Dry skin, Melanocytic nevus, Split foot, Thin skin ORPHA:978
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Micromelia, Abnormal diaphysis morphology, Failure to thrive, Abnormal femur morpholo... ORPHA:1842
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy ORPHA:370968
Hereditary Acrokeratotic Poikiloderma
Erythema, Xerostomia, Skin ulcer, Hypopigmented skin patches, Eczematoid dermatitis, Finger synda... ORPHA:2907
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Perioral erythema, Perianal erythema OMIM:614328
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Dengue Fever
Bruising susceptibility, Ascites, Petechiae, Skin rash, Lethargy, Pruritus ORPHA:99828
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae, Truncal obesity, Thin skin OMIM:610489
Complex Regional Pain Syndrome
Erythema, Pedal edema, Dry skin, Edema of the upper limbs ORPHA:83452
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Multicentric Reticulohistiocytosis
Skin nodule, Cachexia ORPHA:139436
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Intestinal Dysmotility Syndrome
Polyhydramnios, Weight loss, Failure to thrive OMIM:620045
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Dry skin, Abnormal fibula morphology, Polyhydramnios, Thin skin ORPHA:1812
Central Diabetes Insipidus
Lethargy, Depression, Dehydration ORPHA:178029
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Follicular Lymphoma
Skin nodule, Weight loss, Pleural effusion, Lymphedema ORPHA:545
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Weight loss, Palmoplantar keratoderma ORPHA:2198
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Death in childhood OMIM:246900
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Dermal atrophy, Aplasia/Hypoplasia of the clavicles, Lack of skin... ORPHA:90153
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Micromelia, Neonatal death OMIM:273680
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Diffuse palmoplantar hyperkeratosis, Dermal atrophy OMIM:617294
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Kaposi Sarcoma
Papule, Hypermelanotic macule, Lymphedema, Skin rash, Weight loss, Macule, Skin plaque, Skin nodule ORPHA:33276
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Atypical scarring of skin, Skin erosion, Skin ... ORPHA:90186
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy OMIM:268020
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer, Skin rash, Pruritus, Hyperkeratosis ORPHA:1334
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy, Facial edema ORPHA:95717
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:609033
De Barsy Syndrome
Failure to thrive, Intrauterine growth retardation, Excessive wrinkled skin, Talipes equinovarus,... ORPHA:2962
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Thyroid Dyshormonogenesis 1
Dry skin, Lethargy OMIM:274400
Focal Dermal Hypoplasia
Erythema, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Camptodactyly ... ORPHA:2092
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Tooth Agenesis, Selective, 4
Dry skin, Palmar hyperkeratosis, Thin skin OMIM:150400
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Pallor OMIM:613561
Xeroderma Pigmentosum
Erythema, Hypopigmented skin patches, Failure to thrive, Dermal atrophy, Melanocytic nevus, Dry s... ORPHA:910
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... ORPHA:79480
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Death in childhood OMIM:618225
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous plaque, Erythematous papule, Skin ulcer, Weight loss ORPHA:86884
Meier-Gorlin Syndrome 1
Small hand, Small for gestational age, Failure to thrive, Intrauterine growth retardation, Microg... OMIM:224690
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Thin skin, Splenomegaly, Xanthomatosis ORPHA:2348
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Pallor ORPHA:276608
Idiopathic Achalasia
Weight loss ORPHA:930
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Microgna... OMIM:266920
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Facial erythema, Palmoplantar keratoderma OMIM:612843
Dermatosparaxis Ehlers-Danlos Syndrome
Avascular necrosis of the capital femoral epiphysis, Micrognathia, Excessive wrinkled skin, Coxa ... ORPHA:1901
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczematoid dermatitis, Failure to thrive, Leukocytosis, Splenomegaly, Erythroderma, Anemia, Thin ... OMIM:615895
Majeed Syndrome
Metaphyseal irregularity, Inflammatory abnormality of the skin, Failure to thrive, Leukocytosis, ... ORPHA:77297
Congenital Heart Defects And Skeletal Malformations Syndrome
Sandal gap, Failure to thrive, Intrauterine growth retardation, Arachnodactyly, Camptodactyly, Cl... OMIM:617602
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pal... ORPHA:35858
Marshall-Smith Syndrome
Bowing of the long bones, Failure to thrive, Thin skin ORPHA:561
Retinitis Pigmentosa And Erythrocytic Microcytosis