Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Elovl4tm2b(EUCOMM)Hmgu HET Early adult 4.73×10-06

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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.

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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Stargardt Disease
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Retinal thinning, Abnor... ORPHA:827
Stargardt Disease 3
Visual impairment, Macular dystrophy, Macular atrophy, Macular flecks, Reduced visual acuity OMIM:600110
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hyperkeratosis, Erythema, Scaling skin, Dry skin OMIM:614457
Spinocerebellar Ataxia Type 34
Macule, Papule, Dry skin ORPHA:1955
Spinocerebellar Ataxia 34
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
Abnormality of retinal pigmentation, Metamorphopsia OMIM:233800
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Amblyopia, Retinal pigment epithelial mottl... ORPHA:97341
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Dyschromatopsia, Macular dystrophy, Perifove... OMIM:608051
Central Areolar Choroidal Dystrophy
Visual loss, Visual impairment, Slow decrease in visual acuity, Dyschromatopsia, Hypopigmentation... ORPHA:75377
Choroideremia
Constriction of peripheral visual field, Hypopigmentation of the fundus, Chorioretinal degenerati... OMIM:303100
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Retinitis Pigmentosa 39
Rod-cone dystrophy, Visual field defect, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613809
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Visual loss, Blindness, Su... ORPHA:59181
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Visual impairment, Retinopathy ORPHA:1995
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Blindness, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule ... OMIM:180210
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Color vision defect, Macular atrophy, Cone/cone-rod dystrophy, Visual imp... OMIM:603649
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Abnormality of vision, Nyct... ORPHA:180
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Color vision defect, Photophobia, Visual impairment ORPHA:1871
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology, Vis... ORPHA:1852
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Retinitis Pigmentosa 47
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Visual impairment OMIM:613758
Retinitis Pigmentosa 17
Color vision defect, Rod-cone dystrophy, Photophobia, Bone spicule pigmentation of the retina, Ny... OMIM:600852
Stargardt Disease
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Retinal thinning, Abnor... ORPHA:827
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Color vision defect, Visual impairment, Myopia, Hypoautofluor... OMIM:304020
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Bietti Crystalline Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Color vis... ORPHA:41751
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration, Visual impairment OMIM:126600
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Familial Drusen
Visual loss, Macular hyperpigmentation, Subretinal fluid, Metamorphopsia, Abnormality of retinal ... ORPHA:75376
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Bothnia Retinal Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Retinal d... ORPHA:85128
Stargardt Disease 3
Visual impairment, Macular dystrophy, Macular atrophy, Macular flecks, Reduced visual acuity OMIM:600110
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Constriction of peripheral visual field, Pigmentary retinopa... OMIM:615780
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Retinitis Pigmentosa 11
Nyctalopia, Blindness, Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration... OMIM:600138
Retinitis Pigmentosa 92
Pigmentary retinopathy, Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field,... OMIM:619614
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Blue cone monochromacy, Photophobia, Visual impairment ORPHA:16
Best Vitelliform Macular Dystrophy
Color vision defect, Choroideremia, Visual field defect, Cystoid macular degeneration, Metamorpho... ORPHA:1243
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuation of retinal b... OMIM:614180
Retinitis Pigmentosa 54
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuat... OMIM:613428
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Central scotoma, Macular dystrophy, Optic disc pallor, Reduced visual acu... OMIM:616170
Retinal Cone Dystrophy 4
Visual impairment, Retinal pigment epithelial mottling, Photophobia, Cone/cone-rod dystrophy, Con... OMIM:610478
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer ORPHA:2337
Dermoodontodysplasia
Thin skin, Dry skin OMIM:125640
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Retinitis Pigmentosa 37
Rod-cone dystrophy, Pigmentary retinopathy, Tritanomaly, Photophobia, Nyctalopia, Cystoid macular... OMIM:611131
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Const... OMIM:606068
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration, Visual impairment OMIM:613827
Progressive Bifocal Chorioretinal Atrophy
Myopia, Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy, Visual impairment ORPHA:75373
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Visual impairment, Optic atrophy, Myopia ORPHA:1574
Retinitis Pigmentosa 7
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Adult-onset night ... OMIM:608133
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Visual impairment, Rod-cone dystrophy, Optic disc pallor, Bon... OMIM:601718
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Chorioretinal atrophy, Nummular pigmentation of the fundus, Bone spicule ... OMIM:618697
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Erythema, Acantholysis, Thin skin, Edema ORPHA:455
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Macular drusen, Reduced... OMIM:608850
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Progressive visual loss, Rod-cone dystrophy, Optic disc pallor, Phot... OMIM:614500
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:617525
Retinitis Pigmentosa 1
Myopia, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Constriction of ... OMIM:180100
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Retinitis Pigmentosa 2
Bull's eye maculopathy, Pericentral scotoma, Central scotoma, Fundus atrophy, High myopia, Ring s... OMIM:312600
Retinitis Pigmentosa 4
Blindness, Rod-cone dystrophy, Pigmentary retinopathy, Visual field defect, Nyctalopia OMIM:613731
Macular Dystrophy, Vitelliform, 1
Visual impairment, Macular dystrophy, Vitelliform-like macular lesions, Visual field defect, Redu... OMIM:153840
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, High hypermetropia ORPHA:35612
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Adult-Onset Foveomacular Vitelliform Dystrophy
Color vision defect, Abnormality of vision, Vitelliform-like macular lesions, Choroideremia, Iris... ORPHA:99000
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Visual loss, Central scotoma, Color vision defect, Pigmentary retinopathy... OMIM:604116
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
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Hyp... OMIM:172870
Acquired Ichthyosis
Palmoplantar keratoderma, Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Dry skin ORPHA:454
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Nyct... OMIM:180104
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Myopia, Abnormality of retinal pigmentation, Hypermetropia... ORPHA:215
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Constriction of periphe... OMIM:120970
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuation of retinal b... OMIM:613801
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Cutaneous Collagenous Vasculopathy
Bruising susceptibility, Petechiae, Pruritus, Vascular skin abnormality, Erythema, Prominent supe... ORPHA:280779
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Palmoplantar hyperkeratosis, Erythema OMIM:607602
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, Opt... OMIM:610951
Usher Syndrome, Type Iv
Retinal degeneration, Ring scotoma, Retinal atrophy, Hyperautofluorescent macular lesion, Bone sp... OMIM:618144
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Nyctalopia, Constriction ... OMIM:312612
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Parakeratosis, Striae distensae, Pruritus on foot, Facial erythema... ORPHA:64745
Vibratory Urticaria
Flushing, Urticaria, Facial erythema OMIM:125630
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Visual i... OMIM:611040
Mal De Meleda
Palmoplantar keratoderma, Superficial dermal perivascular inflammatory infiltrate, Erythema, None... ORPHA:87503
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Milia, Palmoplantar hyperkeratosis, Erythema, Erythematous plaque, Thin skin, Cru... ORPHA:158673
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Erythema, Edema, Urticaria OMIM:154800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:409
Central Retinal Vein Occlusion
Large central visual field defect, Visual loss, Cystoid macular edema, Retinal neovascularization... ORPHA:411527
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Pruritus, Cutaneous photosensitivity ORPHA:33314
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Atten... OMIM:613756
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections, Papule OMIM:244850
Atrophoderma Vermiculata
Follicular hyperkeratosis, Erythema, Pruritus, Hyperkeratotic papule ORPHA:79100
Bornholm Eye Disease
Deuteranopia, High myopia, Amblyopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia... OMIM:300843
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Milia, Skin rash ORPHA:1658
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Palmoplantar scaling skin, Nonepidermolytic palmop... ORPHA:530838
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, ... ORPHA:284454
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Newfoundland Rod-Cone Dystrophy
Color vision defect, Retinal dystrophy, Nyctalopia, Scotoma, Visual impairment OMIM:607476
Retinitis Pigmentosa 51
High myopia, Visual impairment, Rod-cone dystrophy, Macular degeneration, Photophobia, Bone spicu... OMIM:613464
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura, Thin skin ORPHA:743
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Thin skin, Petechiae, Atypical scarring of skin, Striae distensae OMIM:225310
Cutaneous Photosensitivity And Colitis, Lethal
Death in infancy, Erythema, Early cutaneous photosensitivity OMIM:219095
Late-Onset Retinal Degeneration
Retinopathy, Visual loss, Retinal degeneration, Blindness, Rod-cone dystrophy, Sub-RPE deposits, ... OMIM:605670
Retinitis Pigmentosa 45
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Nyctalopia, Pe... OMIM:613767
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, White papule, Excessive skin wrinkling o... ORPHA:498359
Retinitis Pigmentosa 66
Central scotoma, Visual impairment, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:615233
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Purpura ORPHA:745
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Optic disc pa... OMIM:619389
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Hypermetropia OMIM:268060
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Color vision defect, Hypermetropia, Myopia, Pigmentary retinop... OMIM:613843
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Progressive visual loss, Hyperautofluo... OMIM:618613
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Blindness, Pigmentary retinopathy, Optic disc pallor, Photo... OMIM:204100
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Severely reduced visual acuity, Ma... OMIM:612095
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retin... OMIM:251270
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Milia, Palmoplantar hyperkeratosis, Atrophic scars, Hyperkeratosis, Failure to thrive, ... ORPHA:89838
Classic Mycosis Fungoides
Pruritus, Erythema, Hyperkeratosis, Eczema, Skin ulcer, Edema, Dry skin, Skin rash ORPHA:2584
Acrogeria
Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin ORPHA:2500
Ulerythema Ophryogenesis
Acne, Miscarriage, Facial erythema, Contact dermatitis, Follicular hyperkeratosis, Dry skin, Hype... ORPHA:3406
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Hypotrichosis 6
Follicular hyperkeratosis, Erythema, Pruritus OMIM:607903
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Palmoplantar hyperkeratosis, Dry skin, Facial erythema OMIM:212360
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Recurrent skin infections, Erythema, Urticaria, Purpura, Skin rash ORPHA:889
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin ORPHA:90160
Erosive Pustular Dermatosis Of The Scalp
Erythema, Pustule ORPHA:222
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 78
Cystoid macular edema, Photopsia, Optic disc pallor, Visual field defect, Nyctalopia, Reduced vis... OMIM:617433
Retinitis Pigmentosa 58
Rod-cone dystrophy, Optic disc pallor, Severely reduced visual acuity, Bone spicule pigmentation ... OMIM:613617
Quinquaud Folliculitis Decalvans
Erythema, Recurrent skin infections, Pustule ORPHA:346
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Growth Factors, Combined Defect Of
Plantar hyperkeratosis, Thin skin, Dermal atrophy OMIM:233805
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality o... ORPHA:90159
Elastosis Perforans Serpiginosa
Annular cutaneous lesion, Cutis laxa, Serpiginous cutaneous lesion, Crusting erythematous dermati... ORPHA:79148
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin, Dry skin OMIM:617364
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, High hypermetropia, Reduced visual acuity OMIM:617879
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Blindness, Abnormality of retinal pigmentation, Retinal arteriola... OMIM:605549
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Dermoodontodysplasia
Melanocytic nevus, Thin skin, Dry skin ORPHA:1660
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Color vision defect, Progressive visual loss, Rod-cone dystro... OMIM:613660
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Skin ulcer, Weight loss ORPHA:312
Retinal Detachment
Retinal detachment OMIM:180050
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Edema of the dorsum of feet, Edema of the dorsum of hands, L... ORPHA:281127
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Retinitis Punctata Albescens
Absent foveal reflex, Central scotoma, Progressive night blindness, Progressive visual field defe... ORPHA:52427
Congenital Panfollicular Nevus
Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Pruritus, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus OMIM:146750
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Maculopapular Cutaneous Mastocytosis
Pruritus, Dermatographic urticaria, Erythema, Darier's sign, Flushing, Generalized abnormality of... ORPHA:79457
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Erythema, Hyperkeratosis, Patchy palmoplantar hyperkeratosis, Dry ski... ORPHA:317
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Photophobia, Bone spicule pigmentat... OMIM:602772
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Skin dimple, Failure to thrive, Thin skin, Oligohydramnios ORPHA:261304
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Facial erythema, Eczema, Atopic dermatitis, Pallor, Dry skin OMIM:603165
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin, Stillbirth OMIM:259410
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Jalili Syndrome
Color vision defect, Abnormality of retinal pigmentation, Photophobia, Optic atrophy, Visual impa... ORPHA:1873
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:180020
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Aplasia/Hypoplasia of the skin, Lack of skin elasticity ORPHA:384
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Lethargy ORPHA:79283
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Pruritus, Angioedema, Maculopapular exanthema, Dermat... ORPHA:79455
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Vulvovaginal Gingival Syndrome
Erythema, Pruritus, Parakeratosis ORPHA:83453
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Prolidase Deficiency
Palmoplantar keratoderma, Pruritus, Erythema, Splenomegaly, Papule, Arachnodactyly, Hyperkeratosi... ORPHA:742
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Chromosome 16Q12 Duplication Syndrome
High myopia, Temporal optic disc pallor, Retinal pigment epithelial mottling, Tritanomaly, Photop... OMIM:619649
Bullous Pemphigoid
Erythema, Eczema, Macule, Psoriasiform dermatitis, Weight loss ORPHA:703
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Dermal atrophy, Papule, Hyperkeratosis, Subcutaneous nodule, Milia, Skin plaque, Atroph... ORPHA:89843
Pseudoprogeria Syndrome
Failure to thrive, Thin skin, Decreased body weight ORPHA:2985
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pharyngeal edema, Angioedema, Erythema, Palpebral edema, Tongue edema, Laryngeal edema, Facial edema ORPHA:100057
Morning Glory Disc Anomaly
Amblyopia, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Amyloidosis, Primary Localized Cutaneous, 3
Hypermelanotic macule, Pruritus, Dry skin OMIM:617920
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Idiopathic Localized Lipodystrophy
Pruritus, Erythema, Reduced subcutaneous adipose tissue, Scaling skin, Inflammatory abnormality o... ORPHA:90158
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Amblyopia, Optic nerve misrouting, Abnormality of visual ... ORPHA:352731
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Short femoral neck, Broad femoral neck, Tapered finger, Failure t... ORPHA:157965
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Erythema, Orthokeratosis OMIM:613943
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Blindness, Pigmentary retinopathy, Photophobia, Nyctalopia, At... OMIM:204000
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Color vision defect, Retinal detachment, Retinal pigment epit... ORPHA:364055
Bullous Impetigo
Recurrent bacterial skin infections, Erythema, Pustule ORPHA:36237
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Keratolytic Winter Erythema
Erythema OMIM:148370
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Abnormal... ORPHA:90039
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Pruritus, Parakeratosis, Erythema, Hyperkeratosis OMIM:615821
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Death in childhood, Lethargy OMIM:618683
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Hypomelanotic macule, Palmar hyperkeratosis, Papule, Hyperkeratosis, Plantar hyperkerat... ORPHA:79399
Congenital Glaucoma
Retinal detachment ORPHA:98976
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Annular Erythema
Erythema OMIM:106500
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Erythema Of Acral Regions
Erythema OMIM:227000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia, Weight loss ORPHA:517
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Urticaria, Dry skin ORPHA:816
Progressive Nodular Histiocytosis
Subcutaneous nodule, Papule, Cachexia ORPHA:158022
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Toe clinodactyly, Intrauterine growth retardation, Finger syndactyly, Clinodactyl... ORPHA:217346
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Silver-Russell Syndrome 2
Clinodactyly of the 5th finger, Thin skin, Intrauterine growth retardation, 2-3 toe syndactyly OMIM:618905
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczema, Thin skin ORPHA:1810
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
High hypermetropia, Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal at... OMIM:145350
Retinopathy, Pigmentary, And Mental Retardation
Reduced visual acuity, Pigmentary retinopathy, Visual impairment, Myopia OMIM:268050
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Constriction of peripheral visual field, Rod-cone dyst... OMIM:616562
Autosomal Erythropoietic Protoporphyria
Pruritus, Cutaneous photosensitivity, Erythema, Eczema, Edema ORPHA:79278
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Atypical scarring of skin, Subcutaneous nodule, Aplasia/Hypoplasia of t... ORPHA:1366
Juvenile Hyaline Fibromatosis
Papule, Subcutaneous nodule, Death in infancy, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:2028
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Chorioretinal coloboma, Macular coloboma ORPHA:2196
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Thin skin, Atrophic scars OMIM:130080
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Anemia, Failure to thrive, Dehydration, Skin ulcer, Weigh... ORPHA:33355
Vitreoretinochoroidopathy
Color vision defect, Abnormality of chorioretinal pigmentation, Dyschromatopsia, Blindness, Retin... OMIM:193220
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Mycosis Fungoides
Eczema, Erythema, Pruritus, Psoriasiform dermatitis OMIM:254400
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Dermatitis Herpetiformis
Pruritus, Erythema, Urticaria, Eczema, Edema, Skin vesicle ORPHA:1656
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Psoriasis 2
Hyperkeratosis, Scaling skin, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Protoporphyria, Erythropoietic, 1
Eczema, Erythema, Pruritus, Edema OMIM:177000
Enhanced S-Cone Syndrome
Vitreoretinopathy, Pigmentary retinopathy, Macular edema, Nyctalopia, Retinoschisis, Hemeralopia OMIM:268100
Pemphigus Foliaceus
Pruritus, Acantholysis, Erythema, Erythroderma, Scaling skin, Psoriasiform dermatitis, Pustule, C... ORPHA:79481
Methylmalonic Acidemia With Homocystinuria
Skin rash, Lethargy ORPHA:26
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy OMIM:264470
Fetal Encasement Syndrome
Upper limb undergrowth, Thin skin, Lower limb undergrowth OMIM:613630
Cofs Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Optic atrophy ORPHA:1466
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Optic atrophy, Vis... OMIM:616648
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Pruritus, Angioedema, Dermatographic urticaria, Erythema OMIM:614468
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Thin skin, Excessive wrinkled skin, Cutis laxa OMIM:614438
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema OMIM:104100
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Gaba-Transaminase Deficiency
Death in childhood, Lethargy OMIM:613163
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Narp Syndrome
Corticospinal tract atrophy, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, ... ORPHA:644
Glut1 Deficiency Syndrome 1
Lethargy, Confusion, Paroxysmal lethargy OMIM:606777
Pituitary Adenoma 4, Acth-Secreting
Ecchymosis, Striae distensae, Obesity, Facial erythema, Abdominal obesity, Thin skin, Edema, Purpura OMIM:219090
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Long toe, Cutis laxa, Arachnodactyly, Thin skin, Atrophic scars ORPHA:75496
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent cutaneous fungal infections, Diffuse palmoplantar hyperkeratosis, Palmar hyperkeratosis... ORPHA:495
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Necrobiosis Lipoidica
Erythema, Telangiectasia of the skin, Inflammatory abnormality of the skin, Fragile skin, Skin ulcer ORPHA:542592
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Webbed neck, Short femoral neck, Dislocated radial head, Short me... OMIM:612350
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Nyctalopia, Pigmentary retinopathy, Visual impairment OMIM:600151
Glycine Encephalopathy
Death in infancy, Lethargy OMIM:605899
Combined Oxidative Phosphorylation Deficiency 2
Edema, Redundant neck skin, Lethargy OMIM:610498
Peeling Skin Syndrome 1
Erythema, Pruritus, Scaling skin OMIM:270300
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Eczema, Failure to thrive, Thin skin, Xerostomia, Dry skin ORPHA:238468
Familial Cold Urticaria
Dehydration, Erythema, Pruritus, Urticaria ORPHA:47045
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin, Nonimmune hydrops fetalis, Palpebral edema, Predominantly lower limb lymphedema OMIM:607823
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Pigmented Nodular Adrenocortical Disease, Primary, 2
Thin skin, Truncal obesity, Striae distensae OMIM:610475
Short Syndrome
Clinodactyly, Intrauterine growth retardation, Small for gestational age, Premature skin wrinklin... OMIM:269880
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Lichen Planopilaris
Pruritus, Hypopigmented skin patches, Dermal atrophy, Papule, Hyperkeratosis, Skin ulcer ORPHA:525
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... ORPHA:897
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hyperkeratosis, Erythema, Scaling skin, Dry skin OMIM:614457
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Anetoderma, Dermal atrophy OMIM:250450
Interstitial Granulomatous Dermatitis With Arthritis
Erythema, Pruritus, Inflammatory abnormality of the skin ORPHA:79099
Retinitis Pigmentosa
Progressive night blindness, Blindness, Abnormality of retinal pigmentation, Photophobia, Optic a... ORPHA:791
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:606545
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Palmoplantar keratoderma, Facial erythema, Follicular hyperkeratosis, Dry skin, Folliculitis OMIM:308800
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Pulmonary Blastoma
Weight loss ORPHA:64741
Kosaki Overgrowth Syndrome
Thin skin OMIM:616592
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Thin skin, Atrophic scars OMIM:225320
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Chilblain Lupus
Pruritis on hand, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflammatory abnormality of the... ORPHA:90280
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Arthrochalasia Ehlers-Danlos Syndrome
Avascular necrosis of the capital femoral epiphysis, Thin skin, Coxa valga, Coxa vara ORPHA:1899
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Oculocutaneous Albinism Type 2
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Cutis laxa, Adducted thumb, Talipes equinovarus, Failure to thri... OMIM:219150
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Skin rash OMIM:147060
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Acth-Independent Macronodular Adrenal Hyperplasia
Thin skin, Truncal obesity, Striae distensae OMIM:219080
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormality of visual evoked potentials, Abnormal retinal nerve fiber... ORPHA:1215
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Drowsiness, Coma, Lethargy ORPHA:276608
Centrifugal Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Scaling skin, Inf... ORPHA:90156
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Coma, Lethargy ORPHA:28
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Papule, Anemia, Skin plaq... ORPHA:507
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Pustule, Parakeratosis OMIM:614204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Sydenham Chorea
Erythema ORPHA:306731
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Nonimmune hydrops fetalis, Tibial bowing, Limb undergrowth, Thin skin OMIM:166210
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Failure to thrive, Death in infancy, Milia, Atrophic scars OMIM:226700
Evans Syndrome
Bruising susceptibility, Petechiae, Jaundice, Lethargy, Pallor ORPHA:1959
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Confusion, Lethargy ORPHA:71277
Tuberculosis
Weight loss ORPHA:3389
Juvenile Paget Disease
Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy ORPHA:2801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy OMIM:613154
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Triphalangeal thumb, Aplasia cutis congenita, Short thumb ORPHA:79499
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Multiple cafe-au-lait spots, Obesity, Subcutaneous nodule, Thin skin, Dry skin ORPHA:457059
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Erythrokeratodermia Variabilis Et Progressiva 6
Erythematous plaque, Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakerat... OMIM:618531
Dowling-Degos Disease
Epidermoid cyst, Pruritus, Acne inversa, Digital pitting scar, Hypopigmented macule, Erythematous... ORPHA:79145
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Visual loss, Myopia, Abnormality of retinal pigmentation, Abnormal chorioretinal mor... ORPHA:5
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276556
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Blindness, Pigmentary retinopathy, Rod-cone dystrophy, Moderate myopia, Nyctalopia... OMIM:300578
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Polyhydramnios, Aplasia cutis congenita OMIM:612138
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Scarring alopecia of scalp, Aplasia cutis congenita, Anemia, Milia, Atr... ORPHA:79402
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Pemphigus Vulgaris
Atypical scarring of skin, Acantholysis, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Cirrhosis, Familial
Jaundice, Lethargy OMIM:215600
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, Triphalangeal thumb, Oligodactyly, Talipes equinovarus, Short t... OMIM:201170
Periventricular Nodular Heterotopia
Thin skin ORPHA:98892
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79431
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
N-Acetylglutamate Synthase Deficiency
Coma, Confusion, Lethargy OMIM:237310
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Facial palsy, Cerebral cortical atrophy ORPHA:370968
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276575
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Aplasia Cutis Congenita
Congenital localized absence of skin, Skin ulcer, Aplasia cutis congenita over the scalp vertex ORPHA:1114
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Nodular Non-Suppurative Panniculitis
Erythema, Subcutaneous nodule, Edema, Aplasia/Hypoplasia of the skin, Weight loss ORPHA:33577
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Pigmented Nodular Adrenocortical Disease, Primary, 1
Thin skin, Truncal obesity, Striae distensae OMIM:610489
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276580
Rare Cutaneous Lupus Erythematosus
Neutrophilic infiltration of the skin, Superficial dermal perivascular inflammatory infiltrate, V... ORPHA:535
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Dengue Fever
Bruising susceptibility, Pruritus, Petechiae, Lethargy, Ascites, Skin rash ORPHA:99828
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:324575
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Perianal erythema, Pustule, Perioral erythema OMIM:614328
Meige Disease
Cobblestone-like hyperkeratosis, Recurrent skin infections, Peripheral edema, Atypical scarring o... ORPHA:90186
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Optic atrophy ORPHA:255241
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Dermal atrophy OMIM:617294
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Multicentric Reticulohistiocytosis
Skin nodule, Cachexia ORPHA:139436
Adult Syndrome
Toe syndactyly, Dry skin, Dermal atrophy, Eczema, Thin skin, Split hand, Split foot OMIM:103285
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Rod-cone dystrophy OMIM:268020
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Rod-cone dyst... OMIM:609033
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Thyroid Dyshormonogenesis 1
Dry skin, Lethargy OMIM:274400
Kaposi Sarcoma
Papule, Macule, Lymphedema, Skin nodule, Hypermelanotic macule, Skin plaque, Weight loss, Skin rash ORPHA:33276
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Erythema OMIM:609313
Follicular Lymphoma
Lymphedema, Weight loss, Pleural effusion, Skin nodule ORPHA:545
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Adult Syndrome
Toe syndactyly, Finger syndactyly, Split foot, Thin skin, Melanocytic nevus, Skin ulcer, Dry skin ORPHA:978
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Decreased nerve co... OMIM:256600
Congenital Heart Defects And Skeletal Malformations Syndrome
Intrauterine growth retardation, Arachnodactyly, Failure to thrive, Thin skin, Finger clinodactyl... OMIM:617602
Complex Regional Pain Syndrome
Edema of the upper limbs, Erythema, Pedal edema, Dry skin ORPHA:83452
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Facial edema, Lethargy ORPHA:95717
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Weight loss, Ascites ORPHA:2198
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Hypopigmented skin patches, Palmoplantar hyperkeratosis, Erythema, Papule, Ecz... ORPHA:2907
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked ... ORPHA:436245
Xeroderma Pigmentosum
Dermal atrophy, Hypopigmented skin patches, Erythema, Hyperkeratosis, Macule, Failure to thrive, ... ORPHA:910
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Optic atrophy ORPHA:2518
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Krabbe Disease
Decreased nerve conduction velocity, Diffuse cerebral atrophy, Neurodegeneration, Optic atrophy, ... OMIM:245200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Lethargy OMIM:614299
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Thin skin, Splenomegaly, Xanthomatosis ORPHA:2348
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal degeneration, Attenuation of... OMIM:615986
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Palmoplantar keratoderma, Folliculitis, Facial erythema OMIM:612843
Central Diabetes Insipidus
Dehydration, Excessive daytime somnolence, Lethargy ORPHA:178029
Severe Canavan Disease
Lethargy ORPHA:314911
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Abnormality of fibula morphology, Polyhydramnios, Thin skin, Dry skin ORPHA:1812
Nephronophthisis 14
Retinal degeneration OMIM:614844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Facial palsy, Cerebral cortical atrophy OMIM:613156
Subcorneal Pustular Dermatosis
Erythema, Pruritus, Pustule ORPHA:48377
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Skin ulcer, Weight loss, Erythematous plaque ORPHA:86884
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Pemphigus Erythematosus
Hypopigmented skin patches, Acantholysis, Localized skin lesion, Erythematous plaque, Malar rash,... ORPHA:79480
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Reticulocytosis, Megaloblastic anemia, Abno... ORPHA:35858
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi... ORPHA:2481
Chronic Mucocutaneous Candidiasis
Pruritus, Erythema, Hyperkeratosis, Skin ulcer, Skin rash ORPHA:1334
Lenz-Majewski Hyperostotic Dwarfism
Intrauterine growth retardation, Diaphyseal thickening, Cutis laxa, Proximal symphalangism of han... OMIM:151050
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Meningococcal Meningitis
Petechiae, Reduced consciousness/confusion, Drowsiness, Lethargy, Purpura, Skin rash ORPHA:33475
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Angioedema, Hereditary, 1
Pharyngeal edema, Angioedema, Erythema, Periorbital edema, Intestinal edema, Laryngeal edema OMIM:106100
Self-Improving Dystrophic Epidermolysis Bullosa
Milia, Aplasia cutis congenita, Atrophic scars, Skin erosion ORPHA:79411
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:242100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Palmoplantar hyperkeratosis, Erythema, Flushing, Eczematoid dermatitis, Seborrheic dermatitis, Re... OMIM:259100
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205