Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Phenotype associated images not available

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.

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
Abnormality of retinal pigmentation, Metamorphopsia OMIM:233800
Persistent Placoid Maculopathy
Abnormal macular morphology, Metamorphopsia, Reduced visual acuity, Scintillating scotoma, Retina... ORPHA:97341
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Reduced visual acuity, Central scotoma, Retinal pigment... OMIM:608051
Central Areolar Choroidal Dystrophy
Macular atrophy, Nyctalopia, Visual loss, Perifoveal ring of hyperautofluorescence, Reduced visua... ORPHA:75377
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Visual impairment, Bone spicule pigmen... OMIM:613809
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Visual impairment ORPHA:1995
Cone Rod Dystrophy
Nyctalopia, Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1872
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Color vision defect, Visual impairment, Bull's eye macu... OMIM:603649
Progressive Cone Dystrophy
Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment ORPHA:1871
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retina... OMIM:180210
Choroideremia
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of vision, Myopia, Progressive visua... ORPHA:180
Retinitis Pigmentosa 30
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Visual im... OMIM:607921
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Vis... ORPHA:1852
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Retinitis Pigmentosa 17
Nyctalopia, Color vision defect, Photophobia, Bone spicule pigmentation of the retina, Rod-cone d... OMIM:600852
Retinitis Pigmentosa 47
Nyctalopia, Pigmentary retinopathy, Chorioretinal atrophy, Visual impairment, Rod-cone dystrophy OMIM:613758
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial mottling, Retinal ... ORPHA:827
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Retinal pigment epithelial mottling, Retinal pigment epithelia... OMIM:304020
Retinitis Pigmentosa 33
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Visual impa... OMIM:610359
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Visual impairment, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Retinitis Pigmentosa 76
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Cystoid macular edema... OMIM:617123
Retinitis Pigmentosa 46
Abnormality of retinal pigmentation, Attenuation of retinal blood vessels, Constriction of periph... OMIM:612572
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Stargardt Disease 3
Macular atrophy, Macular flecks, Reduced visual acuity, Visual impairment, Macular dystrophy OMIM:600110
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Constriction of peripheral visual field, Rod-cone dystrophy,... OMIM:615780
Bothnia Retinal Dystrophy
Nyctalopia, Pigmentary retinopathy, Retinitis, Central scotoma, Visual field defect, Retinal pigm... ORPHA:85128
Retinitis Pigmentosa 11
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Perifoveal ring of hyperaut... OMIM:600138
Blue Cone Monochromatism
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Blue cone monochromacy ORPHA:16
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Scaling skin, Erythema OMIM:617571
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Metamorphopsia, Visual field defect, Color vision defect, Choroider... ORPHA:1243
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Nyctalopia, Pigmentary retinopathy, Reduced visual acuit... OMIM:609913
Retinitis Pigmentosa 61
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Bone spicule pigmentation of... OMIM:614180
Retinitis Pigmentosa 54
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Fundus atrophy, Bone spicule... OMIM:613428
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Central scotoma, Visual impairment, Bull's eye maculopathy, Optic disc pal... OMIM:616170
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy, Constriction... OMIM:610478
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia, Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Erythema ORPHA:2337
Dermoodontodysplasia
Thin skin, Dry skin OMIM:125640
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Reduced visual acuity, Attenuation of retinal ... ORPHA:49382
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod... OMIM:606068
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Retinitis Pigmentosa 37
Nyctalopia, Cystoid macular degeneration, Pigmentary retinopathy, Tritanomaly, Red-green dyschrom... OMIM:611131
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Myopia, Visual impairment ORPHA:1574
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Chorioretinal atrophy, Nummular pigmentation of the fundus, Peripheral vi... OMIM:618697
Retinitis Pigmentosa 2
Nyctalopia, Pigmentary retinopathy, Myopia, Chorioretinal degeneration, Constriction of periphera... OMIM:312600
Retinitis Pigmentosa 7
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, ... OMIM:608133
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Myopia, Visual impairment, Chorioretinal dystrophy ORPHA:75373
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal pigment epitheli... OMIM:601718
Retinitis Pigmentosa 90
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Attenuation of retina... OMIM:619007
Macular Dystrophy, Retinal, 3
Reduced visual acuity, Central scotoma, Retinal pigment epithelial atrophy, Color vision defect, ... OMIM:608850
Superficial Epidermolytic Ichthyosis
Acantholysis, Palmoplantar keratoderma, Thin skin, Erythema, Edema ORPHA:455
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Nyctalopia, Reduced visual acuity, Attenuation of r... OMIM:614500
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 1
Nyctalopia, Myopia, Constriction of peripheral visual field, Bone spicule pigmentation of the ret... OMIM:180100
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Palmoplantar keratoderma, Erythema OMIM:617525
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Reduced visual acuity, Visual field defect, Visual impairment, ... OMIM:153840
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinitis Pigmentosa 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Blindness, Rod-cone dystrophy OMIM:613731
Ulerythema Ophryogenesis
Follicular hyperkeratosis, Inflammatory abnormality of the skin, Erythema ORPHA:3406
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, High hypermetropia ORPHA:35612
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Iris hypopigmentation, Retinal nonattachment, Abnormality of vi... ORPHA:99000
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Cone-Rod Dystrophy 3
Visual loss, Pigmentary retinopathy, Attenuation of retinal blood vessels, Central scotoma, Cone/... OMIM:604116
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Aplasia/Hypoplasia of the skin ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata
Aplasia/Hypoplasia of the skin, Generalized hyperkeratosis, Palmoplantar keratoderma ORPHA:737
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy, Hyp... OMIM:172870
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infections, Dry skin ORPHA:454
Retinitis Pigmentosa 9
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Constriction of peripheral ... OMIM:180104
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial at... OMIM:120970
Retinitis Pigmentosa 88
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cystoid macular edema, B... OMIM:618826
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Intellectual Developmental Disorder And Retinitis Pigmentosa
Reduced visual acuity, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular de... OMIM:618195
Congenital Stationary Night Blindness
Nyctalopia, Abnormality of retinal pigmentation, Congenital stationary night blindness with norma... ORPHA:215
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Cutaneous Collagenous Vasculopathy
Skin rash, Pruritus, Vascular skin abnormality, Diffuse telangiectasia, Prominent superficial blo... ORPHA:280779
Retinitis Pigmentosa 6
Nyctalopia, Pigmentary retinopathy, Chorioretinal degeneration, Constriction of peripheral visual... OMIM:312612
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Erythema, Palmoplantar hyperkeratosis OMIM:607602
Usher Syndrome, Type Iv
Nyctalopia, Retinal atrophy, Retinal degeneration, Ring scotoma, Constriction of peripheral visua... OMIM:618144
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Facial erythema, Palmar pruritus, Pruritus on foot, Eczematoid der... ORPHA:64745
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, R... OMIM:610951
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Metamorphopsia, Reduced visual acuity, Choroid... OMIM:608161
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Epidermolytic Palmoplantar Keratoderma
Eczema, Palmoplantar keratoderma, Erythema ORPHA:2199
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Nyctalopia, Optic disc drusen, Rod-cone dystrophy, Reduced visu... OMIM:611040
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Photophobia, Macular degener... OMIM:600977
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema, Urticaria, Erythema OMIM:154800
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar keratosis with erythema and scale, Thin skin, Erythema, Dermal atrophy, Crusting ery... ORPHA:158673
Hyperkeratosis Lenticularis Perstans
Pruritus, Papule, Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Retinitis Pigmentosa 49
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field ... OMIM:613756
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Generalized hyperkeratosis, Palmoplantar keratoderma, Erythema ORPHA:495
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Pruritus, Erythema ORPHA:33314
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Papule, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Central Retinal Vein Occlusion
Visual loss, Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Ret... ORPHA:411527
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... ORPHA:284454
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Skin rash, Milia ORPHA:1658
Bornholm Eye Disease
Protanopia, Abnormality of retinal pigmentation, Amblyopia, High myopia, Optic nerve hypoplasia, ... OMIM:300843
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Retinitis Pigmentosa 45
Nyctalopia, Peripheral visual field loss, Bone spicule pigmentation of the retina, Macular degene... OMIM:613767
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali... ORPHA:530838
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Scotoma, Retinal dystrophy, Color vision defect, Visual impairment OMIM:607476
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura ORPHA:743
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, High myopia, Visual impa... OMIM:613464
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Thin skin, Atypical scarring of skin, Petechiae, Striae distensae OMIM:225310
Late-Onset Retinal Degeneration
Visual loss, Scotoma, Retinal degeneration, Blindness, Adult-onset night blindness, Sub-RPE depos... OMIM:605670
Macular Dystrophy, Patterned, 1
Nyctalopia, Pattern dystrophy of the retina, Dark choroid, Metamorphopsia, Choroidal neovasculari... OMIM:169150
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus, Palmoplantar keratoderma, Skin... ORPHA:498359
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Leber Congenital Amaurosis 15
Nyctalopia, Pigmentary retinopathy, Myopia, Retinal degeneration, Color vision defect, Constricti... OMIM:613843
Retinitis Pigmentosa 83
Asteroid hyalosis, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cysto... OMIM:618173
Retinitis Pigmentosa 41
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Severely reduced visual... OMIM:612095
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Thin skin, Aplasia/Hypoplasia of the skin, Purpura ORPHA:745
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Hypermetropia OMIM:268060
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, C... OMIM:251270
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Skin erosion, Hyperkeratosis, Atrophic scars, Nevus, Failure to thrive, Milia, Aplasia ... ORPHA:89838
Classic Mycosis Fungoides
Skin rash, Pruritus, Hyperkeratosis, Erythema, Edema, Eczema, Skin ulcer, Dry skin ORPHA:2584
Retinitis Pigmentosa 86
Nyctalopia, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retina... OMIM:618613
Acrogeria
Thin skin, Aplasia/Hypoplasia of the skin, Excessive wrinkled skin, Skin ulcer ORPHA:2500
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Dermal atrophy, Macule, Aplasia/Hypoplasia of the skin ORPHA:1962
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204100
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Hypotrichosis 6
Follicular hyperkeratosis, Pruritus, Erythema OMIM:607903
Retinitis Pigmentosa 58
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Peripheral visu... OMIM:613617
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Cutaneous Small Vessel Vasculitis
Skin rash, Purpura, Erythema, Cutis marmorata, Recurrent skin infections, Urticaria ORPHA:889
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Dry skin, Facial erythema, Palmoplantar hyperkeratosis OMIM:212360
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Retinitis Pigmentosa 78
Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid macular edema, Photopsia, Optic d... OMIM:617433
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections, Erythema ORPHA:346
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Inflammatory abnormality of the skin... ORPHA:90159
Retinitis Pigmentosa 43
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field... OMIM:613810
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Nyctalopia, Cone/cone-rod dystrophy, Abnormality of the opti... OMIM:605549
Growth Factors, Combined Defect Of
Thin skin, Plantar hyperkeratosis, Dermal atrophy OMIM:233805
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin, Dry skin OMIM:617364
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Pallor ORPHA:79283
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Retinal degeneration, Reduced visual acuity OMIM:617879
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Elastosis Perforans Serpiginosa
Serpiginous cutaneous lesion, Annular cutaneous lesion, Skin-colored papule, Erythematous papule,... ORPHA:79148
Dermoodontodysplasia
Thin skin, Melanocytic nevus, Dry skin ORPHA:1660
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Ceroid Lipofuscinosis, Neuronal, 6
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy OMIM:619090
Cone-Rod Dystrophy 15
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Color visio... OMIM:613660
Retinitis Punctata Albescens
Macular atrophy, Nyctalopia, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Atten... ORPHA:52427
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Weight loss, Skin ulcer ORPHA:312
Acral Self-Healing Collodion Baby
Edema of the dorsum of hands, Palmoplantar scaling skin, Erythema, Edema of the dorsum of feet, L... ORPHA:281127
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Congenital Panfollicular Nevus
Hyperkeratosis, Verrucous papule, Skin nodule ORPHA:139414
Retinitis Pigmentosa 10
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Geographic atrophy, B... OMIM:180105
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Erythema migrans, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Retinitis Pigmentosa 56
Nyctalopia, Pigmentary retinopathy, Reduced visual acuity, Attenuation of retinal blood vessels, ... OMIM:613581
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Pemphigus Foliaceus
Crusting erythematous dermatitis, Skin vesicle, Acantholysis, Erythema ORPHA:79481
Dermatitis, Atopic
Pruritus, Atopic dermatitis, Facial erythema, Eczema, Recurrent skin infections, Pallor, Dry skin OMIM:603165
Erythrokeratodermia Variabilis
Skin rash, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Erythema, Cutaneous photosensitivi... ORPHA:317
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Oligohydramnios, Thin skin, Skin dimple, Failure to thrive, Intrauterine growth retardation ORPHA:261304
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin, Stillbirth OMIM:259410
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Retinitis Pigmentosa 25
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Constriction of peripher... OMIM:602772
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Jalili Syndrome
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Optic a... ORPHA:1873
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Vulvovaginal Gingival Syndrome
Erythema, Pruritus, Parakeratosis ORPHA:83453
Huriez Syndrome
Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Dry skin ORPHA:384
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Death in childhood, Ataxia, Bradykinesia OMIM:618683
Prolidase Deficiency
Pruritus, Genu valgum, Palmoplantar keratoderma, Thin skin, Hyperkeratosis, Erythema, Crusting er... ORPHA:742
Bullous Pemphigoid
Weight loss, Erythema, Macule, Eczema, Psoriasiform dermatitis ORPHA:703
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Pseudoprogeria Syndrome
Thin skin, Failure to thrive, Decreased body weight ORPHA:2985
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Subcutaneous nodule, Atrophic scars, Skin plaque, Dermal atrophy, Milia... ORPHA:89843
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema ORPHA:2841
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Hypermelanotic macule, Dry skin OMIM:617920
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Erythema OMIM:606545
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Failure to thrive, Abnormality of the metaphysis, Short femoral neck, Tapered finger, ... ORPHA:157965
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Idiopathic Localized Lipodystrophy
Pruritus, Scaling skin, Erythema, Reduced subcutaneous adipose tissue, Inflammatory abnormality o... ORPHA:90158
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Reduced visual acuity... ORPHA:352731
Retinitis Pigmentosa 14
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Retinal arteriolar co... OMIM:600132
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Parakeratosis OMIM:615821
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, R... ORPHA:79435
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Keratolytic Winter Erythema
Erythema OMIM:148370
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Chorioretinal atrophy, Color vision defect, Visual impairmen... ORPHA:364055
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Erythema Of Acral Regions
Erythema OMIM:227000
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Methylmalonic Acidemia With Homocystinuria
Skin rash, Gait disturbance, Lethargy ORPHA:26
Congenital Glaucoma
Retinal detachment ORPHA:98976
Progressive Nodular Histiocytosis
Subcutaneous nodule, Papule, Cachexia ORPHA:158022
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hyperkeratosis, Spotty hypopigmentation, Palmar hyperkeratosis, Hypomelanotic macule, M... ORPHA:79399
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Sjögren-Larsson Syndrome
Hyperkeratosis, Dry skin, Urticaria, Erythema ORPHA:816
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Silver-Russell Syndrome 2
Intrauterine growth retardation, Thin skin, 2-3 toe syndactyly, Clinodactyly of the 5th finger OMIM:618905
Retinitis Pigmentosa 74
Constriction of peripheral visual field, Optic disc pallor, Rod-cone dystrophy, Pigmentary retino... OMIM:616562
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Aplasia cutis congenita, Finger syndactyly, Thin skin, Cachexia, Failure to thriv... ORPHA:217346
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Death in infancy, Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:2028
Retinopathy, Pigmentary, And Mental Retardation
Visual impairment, Myopia, Pigmentary retinopathy, Reduced visual acuity OMIM:268050
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin, Eczema ORPHA:1810
Primary Pigmented Nodular Adrenocortical Disease
Thin skin, Slender build, Striae distensae ORPHA:189439
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Autosomal Erythropoietic Protoporphyria
Pruritus, Erythema, Edema, Cutaneous photosensitivity, Eczema ORPHA:79278
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Atypical scarring of skin, Subcutaneous nodule, Aplasia/Hypoplasia of t... ORPHA:1366
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Orthokeratosis, Erythema OMIM:613943
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Glycine Encephalopathy
Lethargy, Death in infancy, Hyperactivity OMIM:605899
Acral Peeling Skin Syndrome
Eczema, Excessive wrinkling of palmar skin, Scaling skin, Erythema ORPHA:263534
Ehlers-Danlos Syndrome, Periodontal Type, 1
Thin skin, Palmoplantar cutis laxa, Atrophic scars OMIM:130080
Dermatitis Herpetiformis
Pruritus, Erythema, Edema, Eczema, Skin vesicle, Urticaria ORPHA:1656
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Nyctalopia, Pigmentary retinopathy, Abnormality of chorioretinal pi... OMIM:193220
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia, Retinal detachment ORPHA:35737
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204000
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema, Erythema OMIM:254400
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia OMIM:618224
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Sydenham Chorea
Unsteady gait, Erythema ORPHA:306731
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Weight loss, Dehydration, Failure to thrive, Leukopenia, A... ORPHA:33355
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis OMIM:602723
Protoporphyria, Erythropoietic, 1
Pruritus, Edema, Eczema, Erythema OMIM:177000
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Epidermal hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema OMIM:104100
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Pruritus, Erythema, Angioedema, Dermatographic urticaria OMIM:614468
Enhanced S-Cone Syndrome
Nyctalopia, Pigmentary retinopathy, Hemeralopia, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Cofs Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Thin skin, Truncal obesity, Failure to thrive ORPHA:189427
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Dyschromatopsia, Myopia, Peripheral retinal degeneration, Progressive vi... OMIM:264420
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin skin, Cutis laxa, Excessive wrinkled skin, Dermal translucency OMIM:614438
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Visual impairment,... OMIM:616648
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Narp Syndrome
Retinal pigment epithelial mottling, Cerebral cortical atrophy, Corticospinal tract atrophy, Reti... ORPHA:644
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Necrobiosis Lipoidica
Telangiectasia of the skin, Erythema, Fragile skin, Skin ulcer, Inflammatory abnormality of the skin ORPHA:542592
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Lujo Hemorrhagic Fever
Coma, Skin rash, Lethargy ORPHA:319213
Osteogenesis Imperfecta, Type Ii
Thin skin, Small for gestational age, Nonimmune hydrops fetalis OMIM:166210
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Atypical scarring of skin, Cutis laxa, Atrophic scars, Long toe, Arachnodactyly ORPHA:75496
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Purpura, Thin skin, Edema, Striae distensae, Abdominal obesity, Ecchymosis, Obesity OMIM:219090
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Cigarette-paper scars, Short phalanx of finger, ... OMIM:612350
Peeling Skin Syndrome 1
Pruritus, Scaling skin, Erythema OMIM:270300
Familial Cold Urticaria
Pruritus, Dehydration, Urticaria, Erythema ORPHA:47045
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Lethargy, Edema OMIM:610498
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Hypohidrotic Ectodermal Dysplasia
Thin skin, Hyperkeratosis, Xerostomia, Failure to thrive, Eczema, Dry skin ORPHA:238468
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Ataxia, Confusion, Cyanosis ORPHA:71277
Lichen Planopilaris
Pruritus, Hyperkeratosis, Dermal atrophy, Hypopigmented skin patches, Papule, Skin ulcer ORPHA:525
Bardet-Biedl Syndrome 3
Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Visual impairment OMIM:600151
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Short Syndrome
Premature skin wrinkling, Thin skin, Radial deviation of finger, Clinodactyly, Small for gestatio... OMIM:269880
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Progressive night blindness, Blindness, Abnormal retinal vas... ORPHA:791
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Granulomatous Slack Skin
Redundant skin, Cutis laxa, Erythema ORPHA:33111
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Facial erythema, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Pigmented Nodular Adrenocortical Disease, Primary, 2
Thin skin, Truncal obesity, Striae distensae OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Thin skin, Truncal obesity, Striae distensae OMIM:610489
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Kosaki Overgrowth Syndrome
Thin skin OMIM:616592
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Chilblain Lupus
Skin rash, Hyperkeratosis, Erythematous papule, Pruritis on hand, Discoid lupus rash, Malar rash,... ORPHA:90280
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hyperkeratosis, Dry skin, Scaling skin, Erythema OMIM:614457
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Coxa valga ORPHA:1899
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Orthostatic hypotension, Hypertriglyceridemia, Pigmentary retinopathy OMIM:606721
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Thin skin, Atrophic scars OMIM:225320
Pulmonary Blastoma
Weight loss ORPHA:64741
Cutis Laxa, Autosomal Recessive, Type Iiia
Thin skin, Cutis laxa, Failure to thrive, Intrauterine growth retardation, Talipes equinovarus, A... OMIM:219150
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Scaling skin, Erythema, Reduced subcutaneous adipose tissue, Inf... ORPHA:90156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Dermal atrophy, Anetoderma OMIM:250450
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Pallor, Lethargy ORPHA:276608
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Dehydration, Lethargy ORPHA:28
Leishmaniasis
Abnormal macrophage morphology, Skin plaque, Weight loss, Pancytopenia, Thrombocytopenia, Splenom... ORPHA:507
Psoriasis 14, Pustular
Erythema, Pustule, Psoriasiform dermatitis, Parakeratosis OMIM:614204
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Acth-Independent Macronodular Adrenal Hyperplasia
Thin skin, Truncal obesity, Striae distensae OMIM:219080
Epidermolysis Bullosa, Junctional, Herlitz Type
Atrophic scars, Death in infancy, Failure to thrive, Congenital localized absence of skin, Milia OMIM:226700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Erythema OMIM:147060
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Tuberculosis
Weight loss ORPHA:3389
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Evans Syndrome
Lethargy, Jaundice, Petechiae, Bruising susceptibility, Pallor ORPHA:1959
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Visual loss, Abnormality of retinal pigmentation, Nyctalopia, ... ORPHA:5
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Triphalangeal thumb, Aplasia cutis congenita, Short thumb ORPHA:79499
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Erythematous plaque, Parakerat... OMIM:618531
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Thin skin, Subcutaneous nodule, Dry skin, Multiple cafe-au-lait spots, Obesity ORPHA:457059
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Palmoplantar keratoderma, Erythema OMIM:242100
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Pallor, Loss of consciousness ORPHA:276556
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Abnormalit... ORPHA:79431
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Intermediate Generalized Junctional Epidermolysis Bullosa
Aplasia cutis congenita, Palmoplantar keratoderma, Atrophic scars, Scarring alopecia of scalp, An... ORPHA:79402
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss, Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Fatigable weakness, ... ORPHA:255
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Thin skin, Fibular hypoplasia, Clinodactyly, Talipes equinovarus, ... OMIM:201170
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Facial palsy, Pigmentary retinopathy ORPHA:370968
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
N-Acetylglutamate Synthase Deficiency
Confusion, Coma, Lethargy OMIM:237310
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Pallor, Ataxia OMIM:500007
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Periventricular Nodular Heterotopia
Thin skin ORPHA:98892
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Rare Cutaneous Lupus Erythematosus
Psoriasiform lesion, Pustule, Nail bed telangiectasia, Neutrophilic infiltration of the skin, Vas... ORPHA:535
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Nodular Non-Suppurative Panniculitis
Subcutaneous nodule, Weight loss, Erythema, Edema, Aplasia/Hypoplasia of the skin ORPHA:33577
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy ORPHA:26792
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Pallor, Loss of consciousness ORPHA:276575
Cirrhosis, Familial
Jaundice, Lethargy OMIM:215600
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Dengue Fever
Skin rash, Pruritus, Lethargy, Petechiae, Ascites, Bruising susceptibility ORPHA:99828
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia OMIM:246900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia OMIM:312170
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Pallor, Loss of consciousness ORPHA:276580
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Meige Disease
Edema of the dorsum of hands, Skin erosion, Lymphedema, Pleural effusion, Recurrent bacterial ski... ORPHA:90186
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Perioral eczema, Ataxia, Desquamation of skin soon after birth, Eczema ORPHA:79242
Neurodegeneration With Brain Iron Accumulation 2A
Neurodegeneration, Cerebral atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials,... OMIM:256600
Multicentric Reticulohistiocytosis
Cachexia, Skin nodule ORPHA:139436
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy, Ataxia OMIM:614299
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Pallor, Loss of consciousness ORPHA:324575
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema, Erythroderma, Pustule OMIM:614328
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Dermal atrophy, Diffuse palmoplantar hyperkeratosis OMIM:617294
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Adult Syndrome
Toe syndactyly, Thin skin, Split hand, Dermal atrophy, Split foot, Eczema, Dry skin OMIM:103285
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Complex Regional Pain Syndrome
Edema of the upper limbs, Dry skin, Pedal edema, Erythema ORPHA:83452
Adult Syndrome
Toe syndactyly, Finger syndactyly, Thin skin, Melanocytic nevus, Split foot, Skin ulcer, Dry skin ORPHA:978
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Erythema OMIM:609313
Follicular Lymphoma
Lymphedema, Pleural effusion, Weight loss, Skin nodule ORPHA:545
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin OMIM:274400
Coloboma Of Macula
Macular coloboma OMIM:120300
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Kaposi Sarcoma
Skin rash, Lymphedema, Skin plaque, Weight loss, Macule, Papule, Hypermelanotic macule, Skin nodule ORPHA:33276
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Xfe Progeroid Syndrome
Dermal atrophy, Ascites, Cachexia, Dry skin OMIM:610965
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy, Facial edema ORPHA:95717
Pemphigus Erythematosus
Pruritus, Skin vesicle, Acantholysis, Crusting erythematous dermatitis ORPHA:79480
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Dystonia, Facial erythema, Cerebral edema, Pallor ORPHA:439218
Xeroderma Pigmentosum
Thin skin, Hyperkeratosis, Melanocytic nevus, Erythema, Dermal atrophy, Macule, Failure to thrive... ORPHA:910
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Weight loss, Erythematous plaque, Skin ulcer ORPHA:86884
Congenital Heart Defects And Skeletal Malformations Syndrome
Finger clinodactyly, Thin skin, Camptodactyly, Failure to thrive, Intrauterine growth retardation... OMIM:617602
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Cushing Disease
Thin skin, Truncal obesity, Failure to thrive, Recurrent skin infections, Acne ORPHA:96253
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Hereditary Acrokeratotic Poikiloderma
Pustule, Camptodactyly of finger, Finger syndactyly, Thin skin, Erythema, Abnormality of the meta... ORPHA:2907
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Facial erythema, Palmoplantar keratoderma OMIM:612843
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Ascites, Palmoplantar keratoderma ORPHA:2198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebral cortical atrophy, Facial palsy, Pigmentary retinopathy OMIM:613156
Familial Partial Lipodystrophy, Dunnigan Type
Thin skin, Xanthomatosis, Aplasia/Hypoplasia of the skin, Splenomegaly ORPHA:2348
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Thin skin, Sandal gap, Abnormality of fibula morphology, Dry skin ORPHA:1812
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, ... OMIM:245200
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Melanocytic nevus, Numerous congenit... ORPHA:2481
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... OMIM:609033
Nephronophthisis 14
Retinal degeneration OMIM:614844
Central Diabetes Insipidus
Excessive daytime somnolence, Dehydration, Lethargy ORPHA:178029
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia OMIM:618226
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Erythema ORPHA:48377
Fixed Drug Eruption
Crusting erythematous dermatitis, Generalized abnormality of skin, Erythema ORPHA:293812
Recessive X-Linked Ichthyosis
Hyperkeratosis, Attention deficit hyperactivity disorder, Dry skin ORPHA:461
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Ataxia, Confusion, Drowsiness, Loss of consciousness ORPHA:927
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Redundant skin, Flushing, Erythema, Palmoplantar hy... OMIM:259100
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the middle phalanges of the hand, Humeroradial synostosis, Thin skin, Cutis... OMIM:151050
Meningococcal Meningitis
Skin rash, Lethargy, Purpura, Reduced consciousness/confusion, Drowsiness, Petechiae ORPHA:33475
Self-Improving Dystrophic Epidermolysis Bullosa
Milia, Atrophic scars, Aplasia cutis congenita, Skin erosion ORPHA:79411
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle ORPHA:254478
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Erythema, Angioedema, Laryngeal edema OMIM:106100
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Hyperkeratosis, Erythema, Skin ulcer ORPHA:1334
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Palmoplantar keratoderma, Weight loss, Cachexia, Aplasia/Hypoplasia of the skin, Lack of skin ela... ORPHA:1979
Eosinophilic Fasciitis
Subcutaneous nodule, Muscular edema, Weight loss, Macule, Edema, Abnormal eosinophil morphology, ... ORPHA:3165
Isovaleric Acidemia
Coma, Dehydration, Lethargy OMIM:243500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Glycerol Kinase Deficiency
Coma, Lethargy, Loss of consciousness OMIM:307030
Norrie Disease
Retinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:310600
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Loss of consciousness ORPHA:247525
Marshall-Smith Syndrome
Thin skin, Bowing of the long bones, Failure to thrive ORPHA:561
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in childhood, Lethargy, Death in infancy OMIM:619064
Porokeratosis
Hyperkeratosis, Pruritus, Dermal atrophy ORPHA:79358
Peroxisomal Acyl-Coa Oxidase Deficiency