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Gene: Elovl4 MGI:1933331

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Elovl4tm2b(EUCOMM)Hmgu HET Early adult 2.31×10-06
embryonic lethality prior to organogenesis Elovl4tm2b(EUCOMM)Hmgu HOM   E9.5 0.00

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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.

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Elovl4 mutations

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

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

The table below shows human diseases associated to Elovl4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Central scotoma... ORPHA:827
Stargardt Disease 3
Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment, Macular flecks OMIM:600110
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Death in childhood, Dry skin OMIM:614457
Spinocerebellar Ataxia Type 34
Macule, Dry skin, Papule ORPHA:1955
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma 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
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Scintillating s... ORPHA:97341
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... OMIM:608051
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... OMIM:612712
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Visual loss, Nyc... ORPHA:75377
Choroideremia
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... OMIM:303100
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Central scotoma, Retinal pigment epithelial mottling, Reduced visual acu... OMIM:600977
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Visual impairme... OMIM:613809
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Visual impairment ORPHA:1995
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Large central visual field defect, Retinal atrophy, Retinal pigment epithelial atrophy... ORPHA:59181
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Blindness, Retinal atrophy, Retinal dystrophy, Nyctalopi... OMIM:180210
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... OMIM:603649
Choroideremia
Myopia, Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visua... ORPHA:180
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Nyctalopia, Chorioretinal atrophy, Optic atrophy, Rod-co... OMIM:607921
Cone-Rod Dystrophy 24
Pericentral scotoma, Myopia, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macul... OMIM:620342
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... ORPHA:1852
Progressive Cone Dystrophy
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect ORPHA:1871
Retinitis Pigmentosa 47
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment OMIM:613758
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:620228
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Ring scotoma, Const... OMIM:616544
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Central scotoma... ORPHA:827
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613582
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... OMIM:600852
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:610359
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... OMIM:614181
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect OMIM:610445
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Retinal pi... ORPHA:41751
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Bothnia Retinal Dystrophy
Large central visual field defect, Ring scotoma, Bone spicule pigmentation of the retina, Retinal... ORPHA:85128
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:617123
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment OMIM:126600
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinitis Pigmentosa 11
Optic disc pallor, Blindness, Constriction of peripheral visual field, Bone spicule pigmentation ... OMIM:600138
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Metamorphopsia, Peripapillary chorioretinal ... ORPHA:75376
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Ulerythema Ophryogenesis
Miscarriage, Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... ORPHA:3406
Retinitis Pigmentosa 27
Blindness, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macu... OMIM:613750
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:620102
Stargardt Disease 3
Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment, Macular flecks OMIM:600110
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Best Vitelliform Macular Dystrophy
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... ORPHA:1243
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... OMIM:614180
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... OMIM:613428
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... OMIM:610478
Blue Cone Monochromatism
Blue cone monochromacy, Photophobia, Abnormality of retinal pigmentation, Visual impairment ORPHA:16
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 4
Blindness, Retinal atrophy, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual a... OMIM:613731
Dermoodontodysplasia
Dry skin, Thin skin OMIM:125640
Retinitis Pigmentosa 80
Blindness, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:606068
Achromatopsia
Hypoplasia of the fovea, Myopia, Attenuation of retinal blood vessels, Retinal pigment epithelial... ORPHA:49382
Optic Atrophy 5
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... OMIM:610708
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... OMIM:608133
Progressive Bifocal Chorioretinal Atrophy
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment ORPHA:75373
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... OMIM:615973
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Optic atrophy, Abnormality of retinal pigmentation, Visual impairment ORPHA:1574
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin ORPHA:455
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:601718
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal pigment... OMIM:619007
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinitis Pigmentosa 1
Myopia, Optic disc pallor, Constriction of peripheral visual field, Bone spicule pigmentation of ... OMIM:180100
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num... OMIM:618697
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... OMIM:312600
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... OMIM:617879
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:614500
Macular Dystrophy, Vitelliform, 1
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Nanophthalmos
High hypermetropia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy, Hyp... OMIM:172870
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye macu... OMIM:604116
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Visual field defect, Abnormality of vision, Retinal nonattachment, Vitelli... ORPHA:99000
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... OMIM:180104
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... OMIM:618220
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:454
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R... OMIM:610951
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618826
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal atrophy... OMIM:618144
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Blindness, Metamorphopsia, Constriction of peripheral visual field, Reti... OMIM:120970
Congenital Stationary Night Blindness
Myopia, Abnormality of retinal pigmentation, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 40
Rod-cone dystrophy, Nyctalopia, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613801
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... OMIM:300843
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... ORPHA:87503
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:608553
Retinitis Pigmentosa 6
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... OMIM:312612
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Erythematous plaque, Thi... ORPHA:158673
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Mastocytosis, Cutaneous
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans OMIM:154800
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... ORPHA:530838
Atrophoderma Vermiculata
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule ORPHA:409
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Papule, Recurrent cutaneous fungal infections, Palmoplantar keratoderma OMIM:244850
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... OMIM:613756
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Central Retinal Vein Occlusion
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... ORPHA:411527
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... OMIM:605670
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Skin rash, Thin skin ORPHA:1658
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect OMIM:607476
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Petechiae, Thin skin, Striae distensae OMIM:225310
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... OMIM:600059
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy OMIM:551500
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:615233
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... OMIM:618173
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal atrophy... OMIM:617304
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Hypermetropia OMIM:268060
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Hydroa Vacciniforme
Hydroa vacciniforme, Superficial dermal perivascular inflammatory infiltrate, Eczema, Telangiecta... ORPHA:330058
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
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, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... OMIM:619389
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,... ORPHA:89838
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Nyctalopia, Fundus atrophy, Reduced visual acuity, Absent foveal re... OMIM:204100
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... OMIM:600105
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Acrogeria
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis, Facial erythema OMIM:212360
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... OMIM:616170
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Scotoma, Mac... OMIM:217080
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613983
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 46
Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Rod-cone dyst... OMIM:612572
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Elastosis Perforans Serpiginosa
Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem... ORPHA:79148
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613810
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Angioed... ORPHA:100057
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Dermoodontodysplasia
Dry skin, Thin skin, Melanocytic nevus ORPHA:1660
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:616469
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma ORPHA:312
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... OMIM:613660
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... OMIM:613767
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... OMIM:613835
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Central scotoma, Nyctalopia, Progressive visual field defects, ... ORPHA:52427
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Dry skin, Hyperkeratosis, Cutaneous phot... ORPHA:317
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Skin dimple, Thin skin, Intrauterine growth retardation, Failure to thrive, Oligohydramnios ORPHA:261304
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Dermatitis, Atopic
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Dry skin OMIM:603165
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Arachnodactyly, Pruritus, Splenomegaly, Crusting erythematous der... ORPHA:742
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema ORPHA:83453
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Dry skin, Lack of skin elasticity, Palmoplantar keratoderma ORPHA:384
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Bullous Pemphigoid
Macule, Psoriasiform dermatitis, Eczema, Erythema, Weight loss ORPHA:703
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Angioedema, Erythema, Darier's sig... ORPHA:79455
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Pallor ORPHA:79283
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ... ORPHA:1873
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... OMIM:619649
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:617525
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia... ORPHA:89843
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema OMIM:613943
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Pseudoprogeria Syndrome
Failure to thrive, Thin skin, Decreased body weight ORPHA:2985
Night Blindness, Congenital Stationary, Type 1B
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... OMIM:257270
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia ORPHA:35737
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tapered finger, Flat capital femoral epiphysis, Short femoral neck, Thin skin, Abnormal metaphysi... ORPHA:157965
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:600132
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Ichthyosis, Annular Epidermolytic, 1
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis OMIM:607602
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Amblyopia, Blue irides, Reduced visual a... ORPHA:352731
Keratolytic Winter Erythema
Erythema OMIM:148370
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 75
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... OMIM:617023
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Dry skin, Broad thumb, Thin skin OMIM:617364
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,... ORPHA:79399
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Death in childhood OMIM:618683
Erythema Of Acral Regions
Erythema OMIM:227000
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
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
Leber Congenital Amaurosis 1
Blindness, Nyctalopia, Fundus atrophy, Reduced visual acuity, Optic disc drusen, Photophobia, Pig... OMIM:204000
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma OMIM:615821
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Leukocytosis, Weight loss, Pallor, Anemia ORPHA:517
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Congenital Glaucoma
Retinal detachment ORPHA:98976
Progressive Nodular Histiocytosis
Subcutaneous nodule, Papule, Cachexia ORPHA:158022
Sjögren-Larsson Syndrome
Urticaria, Hyperkeratosis, Erythema, Dry skin ORPHA:816
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Silver-Russell Syndrome 2
Clinodactyly of the 5th finger, Intrauterine growth retardation, 2-3 toe syndactyly, Thin skin OMIM:618905
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Failure to thrive, Toe syndactyly, Cachexia, Aplasia cutis congenita, Thin ski... ORPHA:217346
Acral Peeling Skin Syndrome
Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin ORPHA:263534
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Redundant neck skin, Edema OMIM:610498
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Lack of skin elasticity, Atypical scarring o... ORPHA:1366
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Skin ulcer, Dehydration, Weight loss, Leukopenia, Failure ... ORPHA:33355
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczema, Thin skin ORPHA:1810
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity ORPHA:79278
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Juvenile Hyaline Fibromatosis
Death in infancy, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Skin ulcer, Papule ORPHA:2028
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Atrophic scars OMIM:131850
Leber Congenital Amaurosis 15
Attenuation of retinal blood vessels, Myopia, Optic disc pallor, Constriction of peripheral visua... OMIM:613843
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Dermatitis Herpetiformis
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Mycosis Fungoides
Pruritus, Erythema, Psoriasiform dermatitis, Eczema OMIM:254400
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Optic atrophy, Vis... OMIM:616648
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Central scotoma, Nyctalopia, Retinal ... OMIM:617547
Methylmalonic Acidemia With Homocystinuria
Lethargy, Skin rash ORPHA:26
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Pituitary Adenoma 4, Acth-Secreting
Edema, Obesity, Facial erythema, Abdominal obesity, Thin skin, Ecchymosis, Striae distensae, Purpura OMIM:219090
Fetal Encasement Syndrome
Upper limb undergrowth, Lower limb undergrowth, Thin skin OMIM:613630
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria OMIM:614468
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczema, Edema OMIM:177000
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... OMIM:605676
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Enhanced S-Cone Syndrome
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:1466
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Diffuse palmoplantar hyperkeratosis,... ORPHA:495
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Death in childhood OMIM:618224
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Narp Syndrome
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi... ORPHA:644
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Death in childhood, Dry skin OMIM:614457
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Arachnodactyly, Cutis laxa, Atypical scarring of skin, Atrophic scars, Thin skin ORPHA:75496
Vitreoretinochoroidopathy
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Pigmentary retinopathy, ... OMIM:193220
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin ORPHA:542592
Cutis Laxa, Autosomal Recessive, Type Iiia
Cutis laxa, Talipes equinovarus, Thin skin, Intrauterine growth retardation, Failure to thrive, A... OMIM:219150
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:600151
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital femoral epiphysis, Cigare... OMIM:612350
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Hypohidrotic Ectodermal Dysplasia
Eczema, Xerostomia, Dry skin, Hyperkeratosis, Thin skin, Failure to thrive ORPHA:238468
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Glycine Encephalopathy 1
Lethargy, Death in infancy OMIM:605899
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Dehydration ORPHA:47045
Lichen Planopilaris
Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule ORPHA:525
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Pulmonary Blastoma
Weight loss ORPHA:64741
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin OMIM:225320
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... ORPHA:897
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Arthrochalasia Ehlers-Danlos Syndrome
Avascular necrosis of the capital femoral epiphysis, Thin skin, Coxa vara, Coxa valga ORPHA:1899
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:606545
Recon Progeroid Syndrome
Arachnodactyly, Proximal placement of thumb, Thrombocytopenia, Scaling skin, Thin skin, Long thum... OMIM:620370
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap... ORPHA:90280
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess OMIM:147060
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Thin skin, Striae distensae OMIM:219080
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Thin skin, Striae distensae OMIM:610475
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... ORPHA:90156
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Weight ... ORPHA:507
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... ORPHA:791
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Evans Syndrome
Jaundice, Pallor, Lethargy, Bruising susceptibility, Petechiae ORPHA:1959
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema OMIM:615907
Psoriasis 14, Pustular
Pustule, Parakeratosis, Psoriasiform dermatitis, Erythema OMIM:614204
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... ORPHA:79432
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Nonimmune hydrops fetalis, Tibial bowing, Thin skin, Limb undergrowth OMIM:166210
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Acantholysis, Weight loss ORPHA:704
Sydenham Chorea
Erythema ORPHA:306731
Tuberculosis
Weight loss ORPHA:3389
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate, Parakerat... OMIM:618531
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... ORPHA:79145
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Short thumb, Triphalangeal thumb, Aplasia cutis congenita ORPHA:79499
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Thin skin OMIM:607823
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash OMIM:620321
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myopia, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Visual loss, Nyct... ORPHA:5
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Aplasia cutis congenita, Mi... ORPHA:79402
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita, Polyhydramnios OMIM:612138
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... OMIM:256600
Short Syndrome
Small for gestational age, Premature skin wrinkling, Thin skin, Radial deviation of finger, Intra... OMIM:269880
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Constriction of peripheral visual field, Blindness, Nyctalopia, Optic atrophy, P... OMIM:300578
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Periventricular Nodular Heterotopia
Thin skin ORPHA:98892
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Photophobia, Abnorm... ORPHA:79431
Retinitis Pigmentosa 74
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret... OMIM:616562
Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis laxa, Excessive wrinkled skin, Thin skin, Intrauterine growth retardation, Dermal translucency OMIM:614438
Nodular Non-Suppurative Panniculitis
Aplasia/Hypoplasia of the skin, Edema, Subcutaneous nodule, Erythema, Weight loss ORPHA:33577
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Epidermolysis Bullosa, Junctional 1B, Severe
Death in infancy, Congenital localized absence of skin, Atrophic scars, Failure to thrive, Milia OMIM:226700
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Fibular hypoplasia, Talipes equinovarus, Triphalangeal thumb, Thin skin, Short t... OMIM:201170
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Dehydration ORPHA:28
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Cyanosis ORPHA:71277
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy ORPHA:370968
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Thin skin, Striae distensae OMIM:610489
Dengue Fever
Skin rash, Pruritus, Bruising susceptibility, Lethargy, Ascites, Petechiae ORPHA:99828
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Skin ulcer ORPHA:1114
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perianal erythema, Perioral erythema, Erythroderma OMIM:614328
Multicentric Reticulohistiocytosis
Skin nodule, Cachexia ORPHA:139436
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Failure to thrive, Skin nodule, Palmoplantar hyperkeratosis, Tibial bowing, Cornea... OMIM:601812
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Central Diabetes Insipidus
Lethargy, Dehydration, Depression ORPHA:178029
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Genu valgum, Short femoral nec... OMIM:612199
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Death in childhood OMIM:246900
Follicular Lymphoma
Skin nodule, Pleural effusion, Weight loss, Lymphedema ORPHA:545
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Complex Regional Pain Syndrome
Dry skin, Edema of the upper limbs, Erythema, Pedal edema ORPHA:83452
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Palmoplantar keratoderma, Weight loss ORPHA:2198
Adult Syndrome
Toe syndactyly, Eczema, Split hand, Split foot, Thin skin, Dermal atrophy, Dry skin OMIM:103285
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Diffuse palmoplantar hyperkeratosis, Dermal atrophy OMIM:617294
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin OMIM:274400
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Adult Syndrome
Finger syndactyly, Toe syndactyly, Skin ulcer, Melanocytic nevus, Split foot, Thin skin, Dry skin ORPHA:978
Kaposi Sarcoma
Macule, Skin rash, Hypermelanotic macule, Lymphedema, Skin nodule, Weight loss, Skin plaque, Papule ORPHA:33276
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Eczema, Camptodactyly of finger, Pustule, Erythema, Xerostomia, Hypopigmented ... ORPHA:2907
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Polyhydramnios, Abnormal fibula morphology, Thin skin, Dry skin ORPHA:1812
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Pallor OMIM:613561
Tooth Agenesis, Selective, 4
Dry skin, Thin skin, Palmar hyperkeratosis OMIM:150400
Xeroderma Pigmentosum
Macule, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Dry skin, Melanocytic nevus,... ORPHA:910
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Death in childhood OMIM:618225
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis ORPHA:1334
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:2348
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Severe Canavan Disease
Lethargy ORPHA:314911
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous plaque, Erythematous papule, Skin ulcer, Weight loss ORPHA:86884
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Pallor ORPHA:276608
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Splenomegaly, Leukocytosis, Thin skin, Erythroderma, Failure to thrive, Anemia OMIM:615895
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin ORPHA:293812
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Palmoplantar keratoderma, Facial erythema OMIM:612843
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Moynahan Syndrome
Hyperkeratosis, Cachexia ORPHA:2574
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Death in infancy, Death in childhood OMIM:619064
De Barsy Syndrome
Adducted thumb, Coxa vara, Cutis laxa, Excessive wrinkled skin, Talipes equinovarus, Thin skin, I... ORPHA:2962
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Weight loss ORPHA:141152
Idiopathic Achalasia
Weight loss ORPHA:930
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:2518
Stuve-Wiedemann Syndrome 1
Death in infancy, Brachydactyly, Bowing of the long bones, Metaphyseal rarefaction, Adducted thum... OMIM:601559
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule ORPHA:48377
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Marshall-Smith Syndrome
Bowing of the long bones, Failure to thrive, Thin skin ORPHA:561
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Idiopathic Congenital Hypothyroidism
Facial edema, Lethargy, Prolonged neonatal jaundice ORPHA:95717
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... OMIM:245200
Geroderma Osteodysplastica
Redundant skin, Thin skin ORPHA:2078
Eosinophilic Fasciitis
Macule, Abnormal eosinophil morphology, Eosinophilia, Edema, Subcutaneous nodule, Weight loss, Mu... ORPHA:3165
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Cachexia, Lack of skin elasticity, Weight loss, Palmoplantar kera... ORPHA:1979
Crigler-Najjar Syndrome
Lethargy, Jaundice ORPHA:205
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:79083
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy... ORPHA:163525
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Snakebite Envenomation
Ecchymosis, Angioedema, Erythema, Edema ORPHA:449285
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... OMIM:259100
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:242100
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Sandal gap, Thin skin, Camptodactyly, Clinodactyly of the 5th finger, Intrauterin... OMIM:617602
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Lichen Planus Pemphigoides
Pruritus, Skin vesicle, Hyperkeratosis ORPHA:254478
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangiectasia, Pustular rash,... OMIM:615934
Majeed Syndrome
Inflammatory abnormality of the skin, Acne, Edema, Cachexia, Pustule, Congenital hypoplastic anem... ORPHA:77297
Pontocerebellar Hypoplasia, Type 6
Lethargy, Death in childhood OMIM:611523
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity, Osteolytic defects of the distal phalanges of the hand, Thin skin, Derma... ORPHA:90153
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Atrophic scars, Thin skin OMIM:130080
Cyclic Vomiting Syndrome
Lethargy, Pallor OMIM:500007
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... OMIM:620014
Cln3 Disease
Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce... ORPHA:228346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy OMIM:613156
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Focal Dermal Hypoplasia
Macule, Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Camptodactyly of finge... ORPHA:2092
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis, ... ORPHA:324964
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Death in infancy OMIM:619386
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera... ORPHA:79264
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Pallor ORPHA:49827
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Polyhydramnios, Stillbirth, Death in childhood, Neonatal death, Lethargy OMIM:614922
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials, Cerebral ... ORPHA:1947
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Excessive wrinkled sk... ORPHA:1901
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema OMIM:106100
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa OMIM:608068
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Cachexia, Thrombocytopenia, Leukocyto... ORPHA:824
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss ORPHA:86893
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Anemia ORPHA:166113
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Abnormality of visual evoke... ORPHA:2510
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Mepan Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials ORPHA:508093
Polyarteritis Nodosa
Subcutaneous nodule, Erythema, Skin ulcer, Weight loss ORPHA:767
Rapp-Hodgkin Syndrome
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Thin skin, Dry skin OMIM:129400
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos... OMIM:612281
Familial Keratoacanthoma
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer ORPHA:493
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Orthoke... OMIM:257980
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Thrombocytopenia, Hypopigmented skin patches, S... ORPHA:47
Riboflavin Deficiency
Lethargy OMIM:615026
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Atrophic scars, Palmoplantar keratoderma, Mitten deformity, Aplasia cutis congenita... ORPHA:79411
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic... ORPHA:1493
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Tapered finger, Upper eyelid edema, Thin skin, Prominent fingertip pads, Cafe-au-lait spot, Broad... OMIM:617804
Immunoglobulin A Vasculitis
Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, ... ORPHA:761
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Mulibrey Nanism
Intrauterine growth retardation, Cachexia ORPHA:2576
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Polyhydramnios, Cafe-au-lait spot, Thin skin, Webbed neck, Failure to thrive, D... OMIM:617506
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Erythema, Death in childhood, Lethargy, Cerebral edema OMIM:618321
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Pallor ORPHA:276556
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Redundant neck skin, Rhizomelia, Micromelia, Abnormal thumb morphology, Ab... ORPHA:1842
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia, P... ORPHA:3226
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema ORPHA:284227
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Sandal gap, Long fingers, Calcaneovalgus deformity, Absent phalangeal crease, Genu... ORPHA:230851
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Isovaleric Acidemia
Lethargy, Dehydration OMIM:243500
Hypercalcemia, Infantile, 1
Lethargy, Dehydration OMIM:143880
Focal Facial Dermal Dysplasia Type I
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita ORPHA:79133
Cushing Disease
Acne, Leukocytosis, Increased body weight, Skin ulcer, Recurrent cutaneous fungal infections, Ped... ORPHA:96253
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... OMIM:151050
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Abnormal autonomic ... OMIM:231550
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bowing of the ... OMIM:112250
Meier-Gorlin Syndrome 1
Death in infancy, Small for gestational age, Coxa valga, Aplasia/Hypoplasia of the patella, Patel... OMIM:224690
Restrictive Dermopathy 1
Rocker bottom foot, Polyhydramnios, Epidermal hyperkeratosis, Skin erosion, Stillbirth, Scaling s... OMIM:275210
Huntington Disease-Like 2
Weight loss ORPHA:98934
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Pallor ORPHA:276575
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Rod-cone dystrophy, Retinal degeneration OMIM:615558
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm... ORPHA:485421
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Peho Syndrome
Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Undetectable visual e... OMIM:260565
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Metaphyseal wide... ORPHA:536467
Classic Galactosemia
Lethargy, Jaundice, Ascites, Depression ORPHA:79239
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Edema, Postaxial hand polydactyly, Short toe, Short metatarsal, Cone-shaped epiphyses... OMIM:266920
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Pallor ORPHA:276580
Meningococcal Meningitis
Lethargy, Skin rash, Petechiae, Purpura ORPHA:33475
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno... OMIM:616875
Aicardi-Goutieres Syndrome 1
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Pallor ORPHA:324575
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se... ORPHA:88628
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Palmoplantar keratoderma, Skin ulcer ORPHA:659
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Chikungunya
Diminished motivation, Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Prurit... ORPHA:324625
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity OMIM:278760
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Dry skin, Perianal erythema, Perioral erythema OMIM:201100
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... OMIM:616295
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked potentials... ORPHA:168491
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Optic atrophy, Abnormality of visual evoked... ORPHA:52368
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Dehydration ORPHA:79312
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Weight loss ORPHA:100024
Adult-Onset Still Disease
Pruritus, Joint swelling, Erythema, Skin rash ORPHA:829
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Metaphyseal dysplasia, Bowing of the long bones, Subluxation of the small joints o... ORPHA:536471
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Sunct Syndrome
Facial edema, Palpebral edema, Flushing, Facial erythema ORPHA:57145
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Eczema, Periorbital wrinkles, Thin skin, Dry skin, Hypoplastic-absent sebaceous glands OMIM:305100
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy ORPHA:702
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials... ORPHA:480898
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy OMIM:618226
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Subcutaneous nodule, Weight loss, Lymp... ORPHA:514
Pseudo-Torch Syndrome 2
Lethargy, Pleural effusion, Ascites, Petechiae OMIM:617397
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Arachnodactyly, Excessive wrinkled skin, Talipes equinovarus, Thin skin, Molluscoid pseudotumors,... OMIM:225400
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin OMIM:607936
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Aplasia cutis congenita, Acantholysis, Widely spaced toes, Clinodactyly o... OMIM:609638
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Thin skin, Osteolytic defects of the distal phalanges of the hand,... ORPHA:90154
Fountain Syndrome
Facial edema, Erythema, Cutis marmorata ORPHA:3219
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Abnormal flash visual evoked potentials, Optic atrophy, Atrophy/Degeneration ... ORPHA:98755
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Isaacs Syndrome
Weight loss ORPHA:84142
Mandibuloacral Dysplasia
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... ORPHA:2457
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Lethargy, Fatigable weakness of neck muscles ORPHA:42
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Aplasia/Hypoplasia of the skin, Splenomegaly, Osteolytic defects of the phalanges of the hand, Xa... ORPHA:280365
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Dehydration ORPHA:27
Arterial Tortuosity Syndrome
Arachnodactyly, Thin skin, Cutis laxa OMIM:208050
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Takayasu Arteritis
Anemia, Subcutaneous nodule, Skin ulcer, Weight loss ORPHA:3287
Glass Syndrome
Arachnodactyly, Anterior tibial bowing, Talipes equinovarus, Thin skin, Camptodactyly OMIM:612313
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy OMIM:609304
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Arachnodactyly, Thin skin, Anemia ORPHA:2719
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Pruritus, Hypersplenism, Leukocytosis, Thrombocytopenia, W... ORPHA:98850
Flynn-Aird Syndrome
Hyperkeratosis, Dermal atrophy OMIM:136300
Infantile Liver Failure Syndrome 2
Lethargy, Jaundice OMIM:616483
Galactose Epimerase Deficiency
Splenomegaly, Weight loss ORPHA:79238
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Pallor OMIM:611590
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Angioedema, Erythema, Erythroderma ORPHA:139402
Familial Thyroid Dyshormonogenesis
Facial edema, Lethargy, Prolonged neonatal jaundice ORPHA:95716
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Redundant skin, Coxa valga, Avascular necrosis of the capital... ORPHA:3342
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Usher Syndrome
Myopia, Blindness, Abnormality of retinal pigmentation, Nyctalopia, Visual field defect, Progress... ORPHA:886
Holocarboxylase Synthetase Deficiency
Lethargy, Eczema, Perioral eczema ORPHA:79242
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thro... OMIM:209950
Flynn-Aird Syndrome
Cachexia, Dermal atrophy, Skin ulcer ORPHA:2047
Refsum Disease
Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visual loss, ... ORPHA:773
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Dermal atrophy, Scaling skin, G... ORPHA:454831
Susac Syndrome
Lethargy, Apathy ORPHA:838
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Redundan... ORPHA:1807
Typhoid
Lethargy, Skin rash ORPHA:99745
Rhabdoid Tumor
Thrombocytopenia, Subcutaneous nodule, Anemia, Weight loss ORPHA:69077
Juvenile Dermatomyositis
Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Cutaneous... ORPHA:93672
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Microscopic Polyangiitis
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage ORPHA:727
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Xeroderma Pigmentosum Variant
Dry skin, Dermal atrophy ORPHA:90342
Carnitine Deficiency, Systemic Primary
Lethargy, Dehydration OMIM:212140
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy, Cerebral atrophy OMIM:222300
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Kaufman Oculocerebrofacial Syndrome
Metatarsus adductus, Thin skin, Clinodactyly of the 5th finger, Preauricular skin tag, Failure to... OMIM:244450
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Lethargy, Death in infancy OMIM:605711
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin ORPHA:449291
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Propionic Acidemia
Lethargy, Eczema, Dehydration OMIM:606054
Mednik Syndrome
Neonatal death, Death in infancy, Erythema, Death in childhood OMIM:609313
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Excessive wrinkled skin, Dermal atrophy, Intraut... ORPHA:3322
Warburg-Cinotti Syndrome
Joint swelling, Erythema, Thin skin, Follicular hyperkeratosis OMIM:618175
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy OMIM:614299
Diencephalic Syndrome
Large hands, Cachexia, Decreased body weight ORPHA:1672
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:2135
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F... OMIM:610651
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... OMIM:615297
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Splenomegaly, Le... ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Edema OMIM:619183
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lack of skin elasticity ORPHA:2833
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
Acrodermatitis Enteropathica
Pustule, Erythema, Skin ulcer, Dry skin, Generalized abnormality of skin ORPHA:37
Ablepharon Macrostomia Syndrome
Toe syndactyly, Camptodactyly of finger, Redundant skin, Excessive wrinkled skin, Thin skin, Dry ... ORPHA:920
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of v... ORPHA:35069
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Cerebral edema OMIM:237300
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Immunodeficiency 23
Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum contagiosum OMIM:615816
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Death in childhood OMIM:615838
Eosinophilic Gastroenteritis
Eosinophilia, Edema, Leukocytosis, Atopic dermatitis, Weight loss, Ascites, Anemia ORPHA:2070
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Cerebral edema OMIM:201450
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Liposarcoma
Subcutaneous nodule, Weight loss ORPHA:69078
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Erythema, Hyperkeratosis, Stillbirth, Orthokeratosis OMIM:308050
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Edema, Dehydration ORPHA:103910
Lig4 Syndrome
Erythema, Cutaneous photosensitivity, Telangiectasia of the skin ORPHA:99812
Helsmoortel-Van Der Aa Syndrome
Broad hallux, Sandal gap, Tapered finger, Small hand, Obesity, Genu valgum, Truncal obesity, Poly... OMIM:615873
Maple Syrup Urine Disease
Lethargy, Cerebral edema OMIM:248600
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia ORPHA:157973
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin ORPHA:1643
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Lethargy OMIM:557000
Kikuchi-Fujimoto Disease
Macule, Erythematous macule, Skin rash, Palpebral edema, Pruritus, Pustule, Skin nodule, Erythema... ORPHA:50918
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Ablepharon-Macrostomia Syndrome
Short metacarpal, Toe syndactyly, Redundant skin, Cutaneous finger syndactyly, Talipes equinovaru... OMIM:200110
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Death in infancy OMIM:604377
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Prolonged neonatal jaundice, Dry skin, Depression ORPHA:99832
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Osteogenesis Imperfecta, Type I
Thin skin, Finger joint hypermobility, Femoral bowing OMIM:166200
Cirrhosis, Familial
Lethargy, Jaundice, Ascites OMIM:215600
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Pedal edema, Sk... ORPHA:99889
Malignant Peritoneal Mesothelioma
Ascites, Pedal edema, Weight loss ORPHA:168811
Wilson Disease
Pruritus, Thrombocytopenia, Splenomegaly, Increased body weight, Weight loss, Joint swelling, Fai... ORPHA:905
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Pleural Mesothelioma
Pleural effusion, Weight loss ORPHA:50251
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Ecchy... ORPHA:520
Cancer-Associated Retinopathy
Optic disc pallor, Constriction of peripheral visual field, Retinal atrophy, Photopsia, Retinal p... ORPHA:71505
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Failure to thrive, Chilblains, Edema, Pericardial effusion, Weight loss, Hepato... OMIM:619487
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Atypical Werner Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Rocker bottom foot, Lack of skin elasticity, O... ORPHA:79474
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy ORPHA:927
Spinocerebellar Ataxia Type 34
Macule, Dry skin, Papule ORPHA:1955
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Facial wrinkling, Dry skin, Thin skin, Pleural effusion, Failure to th... OMIM:606721
Osteosarcoma
Abnormal femoral metaphysis morphology, Weight loss, Joint swelling, Abnormal tibial metaphysis m... ORPHA:668
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Skin ulcer, Abnormal diaphysis morphology, Abn... ORPHA:1657
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Cafe-au-lait spot, Cerebral ... ORPHA:166035
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Citrullinemia Type I
Lethargy ORPHA:247525
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Incontinentia Pigmenti
Telangiectasia of the skin, Skin rash, Erythema, Skin ulcer, Hyperkeratosis ORPHA:464
Thymic Carcinoma
Palpebral edema, Edema, Weight loss ORPHA:99868
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, F... ORPHA:79396
Xfe Progeroid Syndrome
Cachexia, Dry skin, Death in adolescence, Ascites, Dermal atrophy, Failure to thrive OMIM:610965
Huntington Disease-Like 2
Weight loss OMIM:606438
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... ORPHA:398063
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Isolated Atp Synthase Deficiency
Lethargy ORPHA:254913
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Dehydration OMIM:251000
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Classic Hodgkin Lymphoma
Pruritus, Splenomegaly, Skin rash, Weight loss ORPHA:391
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Scrub Typhus
Lethargy, Skin rash ORPHA:83317
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Failure to thrive, Short femur, Small for gestational age, Long fingers,... OMIM:264090
Gcgr-Related Hyperglucagonemia
Necrolytic migratory erythema ORPHA:438274
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Hypocholesterolemia ORPHA:96180
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Failure to thrive, Lymphopenia ORPHA:100
Genetic Transient Congenital Hypothyroidism
Lethargy, Edema, Prolonged neonatal jaundice ORPHA:226316
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Death in infancy OMIM:201475
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congenita, Short dist... OMIM:614814
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp OMIM:619817
Incontinentia Pigmenti
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor OMIM:308300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Pallor ORPHA:263455
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... OMIM:618733
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Desmoplastic Small Round Cell Tumor
Anemia, Ascites, Cachexia, Weight loss ORPHA:83469
Corneodermatoosseous Syndrome
Erythema, Palmoplantar keratoderma ORPHA:3194
Cholera
Palmoplantar cutis laxa, Lethargy, Miscarriage, Dehydration ORPHA:173
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Ogden Syndrome
Lethargy, Cutis laxa ORPHA:276432
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Kyphoscoliotic Ehlers-Danlos Syndrome
Arachnodactyly, Atypical scarring of skin, Talipes equinovarus, Follicular hyperkeratosis, Thin skin ORPHA:536545
Wolman Disease
Cachexia, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Necrotizing Enterocolitis
Lethargy, Ascites, Edema ORPHA:391673
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Staphylococcal Necrotizing Pneumonia
Lethargy, Pleural effusion, Pleural empyema ORPHA:36238
Non-Functioning Paraganglioma
Pallor, Weight loss ORPHA:94080
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Jaundice, Dehydration, Apathy, Pallor, Lethargy ORPHA:20
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Polyhydramnios, Edema OMIM:607143
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Papilledema, Abnormality of retinal pigmentation OMIM:309900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Primary Intestinal Lymphangiectasia
Lymphopenia, Edema, Pericardial effusion, Weight loss, Decreased proportion of CD3-positive T cel... ORPHA:90362
Biotinidase Deficiency
Recurrent skin infections, Lethargy, Skin rash, Seborrheic dermatitis OMIM:253260
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Increased circulating free fatty acid level ORPHA:71212
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... ORPHA:157850
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Corpus callosum at... ORPHA:228360
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Cachexia, 2-3 toe syndactyly, Hand clenching, Bilateral talipes equinovarus, Neon... OMIM:618186
Yao Syndrome
Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss OMIM:617321
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pericardial effusion, Lethargy, Inflammatory abnormality of the skin, Jaundice ORPHA:26793
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Failure to thrive, Aplasia/Hypoplasia of the skin, Absent toe, ... ORPHA:974
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Polyhydramnios, Jaundice, Lethargy, Ascites OMIM:617156
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin ORPHA:1010
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, Eczema, Perianal erythema,... OMIM:308205
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss ORPHA:171876
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Atypical scarring of skin, Thin skin, Striae distensae ORPHA:60030
Insulinoma
Lethargy ORPHA:97279
Werner Syndrome
Aplasia/Hypoplasia of the skin, Miscarriage, Rocker bottom foot, Small hand, Lack of skin elastic... ORPHA:902
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Cutaneous photosen... ORPHA:2908
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Weight loss ORPHA:65682
Juvenile Huntington Disease
Weight loss ORPHA:248111
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Acantholysis ORPHA:537
Cronkhite-Canada Syndrome
Cachexia, Tapered finger, Lymphedema, Splenomegaly, Anemia ORPHA:2930
Dermatomyositis
Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Dry skin, C... ORPHA:221
Felty Syndrome
Thrombocytopenia, Splenomegaly, Subcutaneous nodule, Weight loss, Neutropenia, Abnormal lymphocyt... ORPHA:47612
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy, Hypertriglyceridemia OMIM:203800
Ifap Syndrome 2
Perioral erythema OMIM:619016
Christianson Syndrome
Death in early adulthood, Cachexia, Adducted thumb ORPHA:85278
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint swelling, Apathy, Lethargy ORPHA:465508
Renal Hypoplasia, Bilateral
Lethargy, Edema, Oligohydramnios ORPHA:97362
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Depression, Prolonged neonatal jaundice, Lethargy, Dry skin ORPHA:90674
Familial Thrombocytosis
Acute myeloid leukemia, Miscarriage, Pruritus, Splenomegaly, Weight loss, Chronic myelogenous leu... ORPHA:71493
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Death in infancy, Oligohydramnios OMIM:608836
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Recurrent skin infections, Camptodactyly of finger, Long fi... ORPHA:3455
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Skin rash, Small ... ORPHA:2909
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Skin rash, Dermal atrophy, Cachexia ORPHA:220295
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atypical scarring of skin, Mitten deformity, Milia, Aplasia cutis con... ORPHA:251393
Holocarboxylase Synthetase Deficiency
Lethargy, Skin rash OMIM:253270
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Dermal atrophy, Pleural ef... ORPHA:69735
Rothmund-Thomson Syndrome Type 2
Facial edema, Plantar hyperkeratosis, Erythema, Facial erythema ORPHA:221016
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia, Tapered finger OMIM:616801
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Apathy, Lethargy ORPHA:863
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia OMIM:310600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Edema, Prolonged neonatal jaundice ORPHA:90673
Focal Myositis
Weight loss ORPHA:48918
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Adducted thumb ORPHA:388
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Atrophy of the spinal cord, Abnormality of pattern visual evoked potenti... ORPHA:2822
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Split hand, Xerostomia, Hyperkeratosis, Split foot, Hand polydactyly, Thin skin OMIM:129900
Beta-Ketothiolase Deficiency
Edema, Leukocytosis, Dehydration, Weight loss, Pallor, Thrombocytosis ORPHA:134
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy, Global brain atrophy OMIM:614225
Melas
Erythema, Bipolar affective disorder, Depression ORPHA:550
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:192
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... ORPHA:193
Pfapa Syndrome
Splenomegaly, Weight loss ORPHA:42642
Mitochondrial Neurogastrointestinal Encephalomyopathy
Anemia, Cachexia, Weight loss ORPHA:298
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss ORPHA:411703
Methylmalonic Aciduria, Cblb Type
Lethargy, Dehydration OMIM:251110
Rat-Bite Fever
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... ORPHA:31205
Citrullinemia Type Ii
Lethargy, Mania, Cerebral edema ORPHA:247585
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Atopic dermatitis, Weight loss, Pleural effusion ORPHA:2902
Neuroblastoma, Susceptibility To, 1
Skin nodule, Failure to thrive, Anemia, Weight loss OMIM:256700
Behcet Syndrome
Erythema nodosum, Erythema OMIM:109650
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Sandal gap, Cachexia, Tapered finger ORPHA:1438
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Mult... ORPHA:1556
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Eosinophilia, Subcutaneous nodule, Hypopigmented skin patches, Weight loss, Papule, Pu... ORPHA:183
Poems Syndrome
Edema, Pericardial effusion, Metaphyseal sclerosis, Abnormality of skin physiology, Weight loss, ... ORPHA:2905
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy OMIM:210200
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cyanosis ORPHA:159
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas ORPHA:32960
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Abnormal optic ne... ORPHA:79430
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Chime Syndrome
Hyperkeratosis, Erythema, Skin ulcer ORPHA:3474
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Perry Syndrome
Weight loss ORPHA:178509
Dyskeratosis Congenita
Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Abnormality of neutrophils, Thromb... ORPHA:1775
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Even-Plus Syndrome
Aplasia cutis congenita, Atopic dermatitis, Dysplasia of the femoral head, Oligohydramnios OMIM:616854
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Skin rash ORPHA:79284
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Skin rash OMIM:277380
Linear Skin Defects With Multiple Congenital Anomalies 2
Aplasia cutis congenita, Asymmetric, linear skin defects, Sandal gap OMIM:300887
Chédiak-Higashi Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglycer... ORPHA:167
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Seborrheic dermatitis OMIM:210210
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Edema, Splenomegaly, Leukopenia, Hyperkeratosis, Palmoplantar ... OMIM:604173
Ebola Hemorrhagic Fever
Lethargy, Maculopapular exanthema ORPHA:319218
Glucagonoma
Skin rash, Necrolytic migratory erythema, Pruritus, Depression, Intermittent jaundice, Ascites, S... ORPHA:97280
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Systemic Capillary Leak Syndrome
Leukocytosis, Pedal edema, Weight loss, Pleural effusion, Pulmonary edema ORPHA:188
Familial Mediterranean Fever
Skin rash, Erythema, Pedal edema, Ascites, Erysipelas ORPHA:342
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Ménétrier Disease
Peripheral edema, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Palpebral edema, Jaundice, Death in adolescence, Lethargy OMIM:614866
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Polyhydramnios, Metacarpal osteolysis, Carpal osteolysis ORPHA:2774
Osteootohepatoenteric Syndrome
Pruritus, Avascular necrosis of the capital femoral epiphysis, Dehydration, Weight loss, Failure ... OMIM:619377
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema ORPHA:330001
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Arachnodactyly, Cachexia, Small hand, Talipes equinovarus, Severe failure to thrive, Intrauterine... ORPHA:371364
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy OMIM:607483
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Fair hair, Optic at... ORPHA:79330
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... ORPHA:206443
Localized Scleroderma
Erythema ORPHA:90289
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Scaling skin, Telangiectasia ORPHA:420741
Mcdonough Syndrome
Cachexia ORPHA:2471
Methylmalonic Aciduria, Cbla Type
Lethargy, Dehydration OMIM:251100
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Plantar hyperkeratosis, Small for gestational age, Aplastic anemia, Facial edem... ORPHA:221008
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... ORPHA:466768
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Abnormality of thumb phalanx, ... ORPHA:1553
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Edema, Depression, Bradykinesia, Lethargy ORPHA:254892
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Recurrent skin infections, Nevus, Skin erosion, Atypical scarring of skin, Decreased body weight,... ORPHA:89842
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Rheumatoid Arthritis
Joint swelling, Swan neck-like deformities of the fingers, Weight loss, Interphalangeal joint ero... OMIM:180300
Silver-Russell Syndrome
Sandal gap, Failure to thrive in infancy, Cachexia, Shoulder dimple, Obesity, Abnormality of the ... ORPHA:813
White-Sutton Syndrome
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atr... OMIM:616364
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy... ORPHA:90321
Bloom Syndrome
Cutaneous photosensitivity, Malar rash, Facial telangiectasia in butterfly midface distribution, ... OMIM:210900
Adrenocortical Carcinoma
Increased body weight, Striae distensae, Weight loss ORPHA:1501
Barber-Say Syndrome
Aplasia/Hypoplasia of the skin, Failure to thrive, Redundant skin ORPHA:1231
Aredyld Syndrome
Splenomegaly, Intrauterine growth retardation, Cachexia, Brachydactyly ORPHA:1133
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... ORPHA:37042
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Lysosomal Acid Lipase Deficiency
Cachexia, Bone-marrow foam cells, Pruritus, Hypersplenism, Vacuolated lymphocytes, Dehydration, W... ORPHA:275761
Biotinidase Deficiency
Lethargy, Eczematoid dermatitis, Skin rash ORPHA:79241
Abetalipoproteinemia
Abnormality of retinal pigmentation, Steatorrhea, Rod-cone dystrophy, Hypocholesterolemia, Hypopi... ORPHA:14
Neurodegeneration With Brain Iron Accumulation 1
Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral... OMIM:234200
Renpenning Syndrome
Clinodactyly of the 5th finger, Abnormal thumb morphology, Cachexia ORPHA:3242
Oculocerebrocutaneous Syndrome
Skin tags, Finger syndactyly, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the distal ph... ORPHA:1647
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Dry skin, Weight loss, Failure to thrive ORPHA:199299
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Xerostomia ORPHA:398079
Vipoma
Erythema, Dehydration, Intermittent jaundice, Ascites, Subcutaneous lipoma ORPHA:97282
Huntington Disease-Like 1
Weight loss ORPHA:157941
Malignant Atrophic Papulosis
Pleural effusion, Dermal atrophy, Papule, Weight loss ORPHA:679
Pneumocystosis
Abnormal neutrophil count, Pleural effusion, Weight loss, Chronic oral candidiasis ORPHA:723
Gm1 Gangliosidosis
Camptodactyly of finger, Splenomegaly, Hydrops fetalis, Weight loss, Hepatosplenomegaly, Abnormal... ORPHA:354
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive OMIM:212750
Posterior Urethral Valve
Lethargy, Oligohydramnios ORPHA:93110
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Citrullinemia, Classic
Lethargy, Cerebral edema OMIM:215700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop... ORPHA:79282
Brucellosis
Small for gestational age, Miscarriage, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomega... ORPHA:1304
X-Linked Creatine Transporter Deficiency
Redundant skin, Cachexia ORPHA:52503
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Jaundice OMIM:615751
Short Syndrome
Excessive wrinkled skin, Brachydactyly, Weight loss, Short palm ORPHA:3163
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Pustule, Skin ulcer, Lethargy, Cerebral edema ORPHA:68
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Aplasia/Hypoplasia of the skin, Small hand, Dermal atrophy, Short 4th metacarpal ORPHA:1787
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Clubbing, Xerostomia, Clubbing of fingers, Anemia OMIM:175500
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Skin rash, Chilblains, Edema, Pericardial effusion, Thrombocytope... OMIM:615846
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Anemia, Weight loss ORPHA:54251
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Pleural effusion OMIM:620233
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Subcutaneous nodule, Weight loss ORPHA:764
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema OMIM:614653
Q Fever
Maculopapular exanthema, Pericardial effusion, Thrombocytopenia, Splenomegaly, Weight loss, Hepat... ORPHA:781
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... ORPHA:158684
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:214100
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy, Cyanosis, Cerebral edema, Death in infancy OMIM:252010
Cap Polyposis
Weight loss ORPHA:160148
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dermal atrophy, Lack of skin elasticity OMIM:615381
Peripheral Primitive Neuroectodermal Tumor
Pruritus, Ascites, Anemia, Weight loss ORPHA:370348
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Cerebral cortical atrophy OMIM:277400
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy OMIM:608643
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Xerostomia ORPHA:398069
Desmosterolosis
Aplasia/Hypoplasia of the skin, Micromelia, Metatarsus adductus, Splenomegaly, Dermal atrophy, In... ORPHA:35107
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Weight loss, Pleural empyema, Pleural effusion, Anemia ORPHA:67
Secondary Short Bowel Syndrome
Failure to thrive, Dehydration, Weight loss ORPHA:95427
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Nevus, Symphalangism ... ORPHA:2990
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Histiocytoid Cardiomyopathy
Lethargy, Cyanosis, Pallor, Pulmonary edema ORPHA:137675
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Cerebral edema OMIM:311250
Idiopathic Bronchiectasis
Clubbing, Cachexia ORPHA:60033
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy, Brain atrophy ORPHA:505248
Encephalitis Lethargica
Lethargy ORPHA:83600
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Hepatosplenomegaly, Weight loss, Anemia, Purpura ORPHA:85450
Eec Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Aplasia/Hypoplasia of the ski... ORPHA:1896
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Simple Cryoglobulinemia
Localized skin lesion, Weight loss, Chronic lymphatic leukemia, Acral ulceration, Purpura ORPHA:91139
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss ORPHA:92050
Blau Syndrome
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry skin ORPHA:90340
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abn... ORPHA:909
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Obesity, Weight loss, Intraute... ORPHA:251071
Lyme Disease
Joint swelling, Skin nodule, Dermal atrophy ORPHA:91546
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Scorpion Envenomation
Purpura, Erythema, Edema, Pulmonary edema ORPHA:466677
Vascular Ehlers-Danlos Syndrome
Macule, Redundant skin, Subcutaneous nodule, Cigarette-paper scars, Melanocytic nevus, Excessive ... ORPHA:286
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Weight loss ORPHA:276621
Hereditary Fructose Intolerance
Lethargy, Jaundice ORPHA:469
Argininosuccinic Aciduria
Lethargy, Cerebral edema OMIM:207900
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Familial Hypoaldosteronism
Lethargy ORPHA:427
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Complete Atrioventricular Septal Defect
Lethargy, Cyanosis ORPHA:1329
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral... OMIM:133540
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Hypopigmented skin patches ORPHA:3121
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm... ORPHA:2556
Proteasome-Associated Autoinflammatory Syndrome 1
Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescence, Premature graying ... OMIM:256040
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy ORPHA:395
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Urticaria, Hyperkeratosis, Erythema, Eczema ORPHA:2273
Erdheim-Chester Disease
Skin rash, Weight loss, Joint swelling, Xanthelasma, Pleural effusion, Abnormal metaphysis morpho... ORPHA:35687
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cafe-au-lait spot, Neurodegeneration, Progressive vitiligo OMIM:251260
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Fetal ascites, Erythema, Atopic dermatitis, Facial erythema,... OMIM:619503
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... ORPHA:191
Castleman Disease
Weight loss, Anemia, Decreased mean corpuscular volume, Anasarca, Thrombocytopenia ORPHA:160
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ped... ORPHA:49041
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord OMIM:607459
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Clubbing, Weight loss, Failure to thrive ORPHA:79128
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Clubbing, Weight loss ORPHA:79127
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Weight loss, Peripheral edema, Anemia ORPHA:85443
Giant Cell Arteritis
Skin ulcer, Weight loss ORPHA:397
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Marburg Hemorrhagic Fever
Skin rash, Maculopapular exanthema, Jaundice, Dehydration, Lethargy, Bruising susceptibility, Pet... ORPHA:99826
Medulloblastoma
Lethargy ORPHA:616
Granulomatosis With Polyangiitis
Granulomatosis, Skin ulcer, Weight loss OMIM:608710
Hypermobile Ehlers-Danlos Syndrome
Atypical scarring of skin, Subcutaneous nodule, Thin skin ORPHA:285
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Finger syndactyly, Hypoplasia of the ulna, Toe syndac... ORPHA:84
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Skin rash, Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, ... OMIM:301074
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Kawasaki Disease
Palmoplantar erythema, Jaundice, Skin rash, Edema ORPHA:2331
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... ORPHA:636
Chronic Graft Versus Host Disease
Poor wound healing, Erythema, Xerostomia, Skin ulcer, Skin vesicle, Pleural effusion, Ascites ORPHA:99921
Tetrasomy 12P
Cachexia ORPHA:884
Nephroblastoma
Weight loss ORPHA:654
Primary Hepatic Neuroendocrine Carcinoma
Erythematous plaque, Ascites, Weight loss ORPHA:100085
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Urachal Cyst
Erythema ORPHA:488
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ... ORPHA:404454
Budd-Chiari Syndrome
Splenomegaly, Ascites, Weight loss ORPHA:131
Isolated Complex I Deficiency
Lethargy ORPHA:2609
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia ORPHA:93941
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Cystic Echinococcosis
Localized skin lesion, Eosinophilia, Splenic cyst, Weight loss ORPHA:400
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217085
Sympathetic Ophthalmia
Erythema, Macular edema ORPHA:79098
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
Mucopolysaccharidosis Type 3
Optic atrophy, Central nervous system degeneration, Pigmentary retinopathy, Rod-cone dystrophy, R... ORPHA:581
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217093
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Polycythemia Vera
Pruritus, Splenomegaly, Acute leukemia, Weight loss ORPHA:729
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... ORPHA:91500
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Dry skin, Weight loss ORPHA:95409
Zollinger-Ellison Syndrome
Jaundice, Erythema ORPHA:913
Reactive Arthritis
Pustule, Joint swelling, Hyperkeratosis, Weight loss ORPHA:29207
Relapsing Polychondritis
Erythema, Purpura ORPHA:728
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Lethargy, Prolonged neonatal jaundice ORPHA:226307
Whipple Disease
Anemia, Cachexia, Pedal edema, Splenomegaly ORPHA:3452
Perry Syndrome
Weight loss OMIM:168605
Granulomatosis With Polyangiitis
Skin rash, Periorbital edema, Skin ulcer, Weight loss, Granulomatosis, Papule, Purpura ORPHA:900
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Weight loss ORPHA:29072
Dysosteosclerosis
Abnormal metaphysis morphology, Aplasia/Hypoplasia of the skin, Coarse metaphyseal trabecularization ORPHA:1782
Toriello-Lacassie-Droste Syndrome
Aplasia/Hypoplasia of the skin, Polyhydramnios, Short palm, Failure to thrive, Brachydactyly ORPHA:3339
Multiple Endocrine Neoplasia Type 4
Erythema, Subcutaneous lipoma ORPHA:276152
Alveolar Echinococcosis
Eosinophilia, Pedal edema, Weight loss, Abnormal spleen morphology, Anemia, Cutaneous abscess ORPHA:284
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Hepatosplenomegaly... ORPHA:85408
Oromandibular Dystonia
Weight loss ORPHA:93958
Adams-Oliver Syndrome 5
Syndactyly, Hypersplenism, Splenomegaly, Cutis marmorata telangiectatica congenita, Aplasia cutis... OMIM:616028
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Small hand, Obesity, Short foot, S... ORPHA:85293
Diamond-Blackfan Anemia
Lethargy, Pallor, Nonimmune hydrops fetalis ORPHA:124
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Dry skin OMIM:218700
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Fatal Familial Insomnia
Weight loss OMIM:600072
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Slender build, Cachexia, Weight loss OMIM:603041
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Lymphedema, Subcutaneous nodule, Nevus, Multiple cafe-au-lait spots, Broad thumb ORPHA:109
Caroli Disease
Pruritus, Splenomegaly, Leukocytosis, Weight loss, Ascites ORPHA:53035
Lynch Syndrome
Death in infancy, Death in early adulthood, Weight loss ORPHA:144
Restrictive Dermopathy
Camptodactyly of finger, Polyhydramnios, Epidermal hyperkeratosis, Skin erosion, Scaling skin, De... ORPHA:1662
Insulin-Resistance Syndrome Type B
Skin rash, Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased ... ORPHA:2298
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Cerebral atrophy, Pigmentary retin... OMIM:219800
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Dermal atrophy,... OMIM:127550
Glycine Encephalopathy
Lethargy ORPHA:407
Addison Disease
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Dry skin, Weight loss, Failure to th... ORPHA:85138
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy ORPHA:306674
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Polymyositis
Weight loss ORPHA:732
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy ORPHA:415
Exercise-Induced Malignant Hyperthermia
Lethargy, Dry skin, Flushing ORPHA:466650
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus OMIM:278700
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Cachexia, ... ORPHA:1328
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Edema, Weight loss ORPHA:309031
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Pearson Syndrome
Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin, Steatorrhea ORPHA:699
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Recurrent skin infections, Skin rash, Splenomegaly, Weight... OMIM:619381
Eisenmenger Syndrome
Cyanosis, Pedal edema, Peripheral edema, Lethargy, Ascites, Generalized edema ORPHA:97214
Multiple Myeloma
Splenomegaly, Pleural effusion, Anemia, Weight loss ORPHA:29073
Fryns-Smeets-Thiry Syndrome
Patellar aplasia, Arachnodactyly, Cachexia ORPHA:2058
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Failure to thrive, Dehydration, Weight loss ORPHA:99885
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Pontocerebellar atrophy, Facial palsy ORPHA:258
Barber-Say Syndrome
Brachydactyly, Redundant skin, Talipes equinovarus, Dermal atrophy, Clinodactyly of the 5th finge... OMIM:209885
Sarcoidosis
Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Erythema nodosum, Thrombocytopenia, Skin... ORPHA:797
Hydranencephaly
Lethargy ORPHA:2177
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly,... ORPHA:2072
Alobar Holoprosencephaly
Lethargy, Apathy, Depression ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Lethargy, Apathy, Depression ORPHA:93926
Lobar Holoprosencephaly
Lethargy, Apathy, Depression ORPHA:93924
Semilobar Holoprosencephaly
Lethargy, Apathy, Depression ORPHA:220386
Gallbladder Neuroendocrine Tumor
Ascites, Weight loss ORPHA:100086
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... ORPHA:744
Seckel Syndrome
Clinodactyly of the 5th finger, Intrauterine growth retardation, Sandal gap, Cachexia ORPHA:808
Multiple Endocrine Neoplasia Type 1
Lethargy, Dehydration, Depression ORPHA:652
Baller-Gerold Syndrome
Erythema OMIM:218600
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Rett Syndrome
Short foot, Cachexia OMIM:312750
Microsporidiosis
Cachexia, Abnormality of the spleen, Skin nodule, Dehydration, Weight loss, Decreased proportion ... ORPHA:2552
Postinfectious Vasculitis
Subcutaneous nodule, Inflammatory abnormality of the skin, Palpable purpura, Weight loss ORPHA:48435
Fructose Intolerance, Hereditary
Lethargy, Jaundice OMIM:229600
Klatskin Tumor
Weight loss ORPHA:99978
Glycerol Kinase Deficiency
Lethargy OMIM:307030
Schwartz-Jampel Syndrome
Death in infancy, Bowing of the long bones, Polyhydramnios, Micromelia, Coxa valga, Cachexia, Cox... ORPHA:800
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Edema, Weight loss ORPHA:100078
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Abnormal fingertip morphology, Edema, Skin erosion, Dehydration, Skin ... ORPHA:79404
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Fragile skin OMIM:614748
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Pruritus, Splenomegaly, Weight loss, Hepatosplenomegaly, Pleural ... ORPHA:171
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Aplasia/Hypoplasia of the skin, Redundant skin, Abnormal metacarpal morphology... ORPHA:2658
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Weight loss ORPHA:100075
Lysinuric Protein Intolerance
Lethargy ORPHA:470
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Mucolipidosis Type Ii
Splenomegaly, Hepatosplenomegaly, Weight loss, Talipes equinovarus, Oligohydramnios ORPHA:576
Autoimmune Pulmonary Alveolar Proteinosis
Clubbing, Weight loss ORPHA:747
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Palmoplantar erythema OMIM:612474
Malt Lymphoma
Anemia, Weight loss ORPHA:52417
Behçet Disease
Acne, Splenomegaly, Subcutaneous nodule, Weight loss, Pleural effusion, Papule ORPHA:117
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Brachydactyly, Cachexia, Short palm ORPHA:3217
Pineoblastoma
Lethargy ORPHA:251909
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Clubbing of fingers, Broad thumb, Anemia, Broad phalanx of the toes ORPHA:79076
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of visual ... OMIM:203700
De Sanctis-Cacchione Syndrome
Bilateral coxa valga, Dermal atrophy, Parakeratosis, Hypermelanotic macule OMIM:278800
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor, Weight loss ORPHA:91347
Hutchinson-Gilford Progeria Syndrome
Hypermelanotic macule, Coxa valga, Lack of skin elasticity, Weight loss, Osteolytic defects of th... ORPHA:740
Linear Skin Defects With Multiple Congenital Anomalies 3
Asymmetric, linear skin defects, Failure to thrive OMIM:300952
Kindler Syndrome
Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy, Palmoplantar hyperkeratosis OMIM:173650
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Somatostatinoma
Ascites, Hypochromic microcytic anemia, Weight loss ORPHA:97283
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture of finger, Polyhydramnios, Weight loss, Talipes equinovarus, Failure to thrive ORPHA:2020
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Nocardiosis
Subcutaneous nodule, Pleural effusion, Weight loss, Cutaneous abscess ORPHA:31204
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Iron deficiency anemia, Atrophic scars, Palmoplantar keratoderma, Mitt... ORPHA:79408
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia cutis congenita, Recurrent skin infections, Polyhydramnios ORPHA:79403
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Pericardial effusion, Splenomegaly, Clubbing, Weight loss, Pleural effusion OMIM:181000
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia ORPHA:647
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Palpebral edema, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Clinodac... OMIM:181270
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Facial edema, Xerostomia, Weight loss, Thrombocytopenia ORPHA:79078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Acne, Dehydration, Weight loss, Failure to thrive, Premature fusion of the radial ep... ORPHA:90794
Xeroderma Pigmentosum, Complementation Group E
Dermal atrophy OMIM:278740
Oculoectodermal Syndrome
Preauricular skin tag, Aplasia cutis congenita, Epidermal nevus, Lymphedema OMIM:600268
Ppoma
Ascites, Weight loss ORPHA:97278
Pancreatoblastoma
Weight loss ORPHA:677
Paroxysmal Nocturnal Hemoglobinuria
Lethargy, Jaundice ORPHA:447
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Weight loss ORPHA:1333
Pulmonary Alveolar Microlithiasis
Clubbing of fingers, Peripheral edema, Stippled calcification in carpal bones, Weight loss ORPHA:60025
Marfan Syndrome
Slender build, Cachexia, Arachnodactyly, Striae distensae ORPHA:558
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Tropical Pancreatitis
Weight loss ORPHA:103918
Goodpasture Syndrome
Pallor, Anemia, Weight loss OMIM:233450
Grfoma
Ascites, Weight loss ORPHA:97261
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia, Dermal atrophy, Intrauterine ... OMIM:305000
African Trypanosomiasis
Erythematous macule, Miscarriage, Pruritus, Splenomegaly, Hepatosplenomegaly, Weight loss ORPHA:3385
Primary Fanconi Renotubular Syndrome
Dehydration, Weight loss ORPHA:3337
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Eosinophilia, Pedal edema, Weight loss ORPHA:449395
Choreoacanthocytosis
Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis, Weight loss ORPHA:2388
Parathyroid Carcinoma
Weight loss ORPHA:143
Branchiooculofacial Syndrome
Preauricular pit, Proximal placement of thumb, Aplasia cutis congenita, Short thumb, Preaxial han... OMIM:113620
Stickler Syndrome
Arachnodactyly, Cachexia, Genu valgum, Abnormal diaphysis morphology, Slender build ORPHA:828
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Splenomegaly, Pedal edema, Peripheral edema, Ascites ORPHA:75565
Norrie Disease
Failure to thrive, Cachexia ORPHA:649

Histopathology

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

There is no histopathology data for Elovl4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Elovl4.

No publications found that use IMPC mice or data for Elovl4.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Elovl4tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Elovl4tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Elovl4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Elovl4tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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