Gene Summary

Name:
patatin-like phospholipase domain containing 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased body length Pnpla1tm1b(KOMP)Wtsi HET Early adult 2.13×10-05
preweaning lethality, incomplete penetrance Pnpla1tm1b(KOMP)Wtsi HOM   Early adult 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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Pnpla1 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 Pnpla1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... OMIM:615024
Congenital Ichthyosiform Erythroderma
Palmoplantar keratoderma, Ichthyosis, Erythroderma, Pruritus ORPHA:79394

The table below shows human diseases predicted to be associated to Pnpla1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ulerythema Ophryogenesis
Facial erythema, Contact dermatitis, Miscarriage, Dry skin, Acne, Hyperkeratotic papule, Follicul... ORPHA:3406
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Porokeratosi... ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht... OMIM:617571
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratoderma, Recurrent skin infectio... ORPHA:454
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Abnormality of the dentition, Palmoplantar hyperkeratosis OMIM:617756
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperker... OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Palmar pruritus, Atopic dermatitis, Orth... ORPHA:498359
Lamellar Ichthyosis
Ichthyosis, Hyperkeratosis, Dehydration, Abnormality of the dentition, Dry skin, Everted lower li... ORPHA:313
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmoplantar hyperkeratosis OMIM:212360
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis ORPHA:2337
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Mal De Meleda
Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic palmoplanta... ORPHA:87503
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de... ORPHA:530838
Huriez Syndrome
Palmoplantar keratoderma, Lack of skin elasticity, Dry skin, Sclerodactyly ORPHA:384
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Erythema, Follicular hyperkeratosis ORPHA:79100
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ichthyosis With Erythrokeratoderma
Scaling skin, Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenital ichthyosiform erythr... OMIM:620507
Classic Mycosis Fungoides
Skin ulcer, Hyperkeratosis, Skin rash, Dry skin, Eczematoid dermatitis, Pruritus, Edema, Erythema ORPHA:2584
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Ichthyosis Vulgaris
Ichthyosis, Dry skin, Eczematoid dermatitis OMIM:146700
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Pruritus on foot, Palmar pruritus, Eczematoid dermatitis, Palmopl... ORPHA:64745
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Generalized hyperkeratosis, Generalized ichthyosis, Dry skin, Cutis laxa, Eclabion ORPHA:2269
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Dermatitis, Atopic
Facial erythema, Ichthyosis, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Recurrent skin i... OMIM:603165
Anonychia With Flexural Pigmentation
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Vibratory Urticaria
Urticaria, Facial erythema, Flushing, Dermatographic urticaria OMIM:125630
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Hyperkeratosis, Skin rash, Dry skin, Patchy palmoplantar hyperkeratos... ORPHA:317
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Ichthyosis, Dry skin ORPHA:2271
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Ichthyosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, ... OMIM:620148
Ataxia-Photosensitivity-Short Stature Syndrome
Cutaneous photosensitivity, Dry skin, Gait disturbance, Urticaria, Ataxia ORPHA:1184
Bathing Suit Ichthyosis
Scaling skin, Parakeratosis, Ichthyosis, Eclabion, Thickened skin, Congenital nonbullous ichthyos... ORPHA:100976
Mal De Meleda
Perioral erythema, Congenital symmetrical palmoplantar keratosis, Ichthyosis OMIM:248300
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis, Dry skin, Urticaria, Erythema ORPHA:816
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin, Pruritus, Cutaneous photosensitivity OMIM:617920
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Palm... OMIM:607602
Dermatoleukodystrophy
Thickened skin, Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Edema of the dorsum of hands, ... ORPHA:281127
Idiopathic Localized Lipodystrophy
Scaling skin, Morphea, Erythema, Reduced subcutaneous adipose tissue, Inflammatory abnormality of... ORPHA:90158
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Abnormality of the dentition, Pruritus, Plantar hyperkeratosis, Palmar hyperkerat... ORPHA:79399
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Cutaneous photosensitivity ORPHA:33314
Familial Reactive Perforating Collagenosis
Perifolliculitis, Abnormal oral mucosa morphology, Inflammatory abnormality of the skin, Pruritus... ORPHA:79147
Peeling Skin Syndrome 6
Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus OMIM:618084
Hydroa Vacciniforme
Hydroa vacciniforme, Cutaneous photosensitivity, Malar rash, Superficial dermal perivascular infl... ORPHA:330058
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Hyperkeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Palmoplan... OMIM:606545
Congenital Lethal Erythroderma
Ichthyosis, Dry skin, Death in infancy, Urticaria, Congenital exfoliative erythroderma ORPHA:1954
Elastoderma
Cutis laxa, Erysipelas, Premature skin wrinkling, Eczematoid dermatitis ORPHA:228240
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Narrow mouth, Thickened skin, Lack of skin elasticity, ... ORPHA:1979
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema OMIM:613943
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Ichthyosis, Death in childhood, Hyperkeratosis, Dry skin, Congenital nonbullous ich... OMIM:614457
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Polyhydramnios, Acanthosis nigricans, Abnormal dental e... ORPHA:3071
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythroderma, Dry skin, Cong... OMIM:612281
Harlequin Ichthyosis
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Eclabion, Erythro... ORPHA:457
Peeling Skin Syndrome 3
White scaling skin, Pruritus, Erythema OMIM:616265
Acral Peeling Skin Syndrome
Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Erythema ORPHA:263534
Cutaneous Mastocytoma
Scaling skin, Erythema, Maculopapular exanthema, Peau d'orange, Angioedema, Thickened skin, Darie... ORPHA:79455
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Death in infancy OMIM:219095
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Pruritus, Oral mucosal blisters, Palmoplantar hyperkeratosis ORPHA:89838
Mastocytosis, Cutaneous
Edema, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Superficial Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Acantholysis, Edema, Erythema ORPHA:455
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen... OMIM:620150
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Prominent superficial blood vessels... ORPHA:280779
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergr... OMIM:615023
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle, Erythema migrans, Pruritus ORPHA:158681
Sydenham Chorea
Inappropriate behavior, Unsteady gait, Compulsive behaviors, Erythema ORPHA:306731
Phenylketonuria
Hyperactivity, Dry skin, Compulsive behaviors, Eczematoid dermatitis, Scleroderma, Attention defi... OMIM:261600
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus, Erythema ORPHA:83453
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Chilblain Lupus
Skin ulcer, Malar rash, Hyperkeratosis, Skin rash, Discoid lupus rash, Cutis marmorata, Inflammat... ORPHA:90280
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Erythema ORPHA:346
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Ichthyosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Pruritus OMIM:615821
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Erythema OMIM:617525
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Congenital bull... ORPHA:312
Dermatofibrosarcoma Protuberans
Thickened skin, Skin ulcer, Erythema ORPHA:31112
Cutaneous Small Vessel Vasculitis
Purpura, Skin rash, Urticaria, Cutis marmorata, Recurrent skin infections, Erythema ORPHA:889
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin... ORPHA:90159
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Hyperkeratosis, Dry skin, Fragile skin, Punctate palmoplantar hyperkeratosis, Acant... OMIM:616295
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Bazex Syndrome
Scaling skin, Parakeratosis, Lip hyperpigmentation, Acanthosis nigricans, Hyperkeratosis, Palmopl... ORPHA:166113
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Inability to walk, Dry skin, Follicular hyperkeratosis OMIM:617066
Ichthyosis Hystrix, Curth-Macklin Type
Palmoplantar keratoderma, Hyperkeratotic papule, Scaling skin, Fragile skin OMIM:146590
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Scaling skin on fingertip, Congenital nonb... ORPHA:79395
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Acantholysis, Erythema ORPHA:2841
Uv-Sensitive Syndrome 3
Telangiectasia, Dry skin, Cutaneous photosensitivity OMIM:614640
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Maculopapular Cutaneous Mastocytosis
Generalized abnormality of skin, Darier's sign, Pruritus, Flushing, Dermatographic urticaria, Ery... ORPHA:79457
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis OMIM:617115
Spinocerebellar Ataxia Type 34
Progressive cerebellar ataxia, Dysdiadochokinesis, Dry skin, Gait disturbance, Urticaria ORPHA:1955
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Dry skin, Eczematoid dermatitis, Cutis laxa, Dysphagia OMIM:612379
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Hyperkeratosis, Ectodermal dysplasia, Dry skin OMIM:224750
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Aggressive behavior OMIM:247100
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Dry skin, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:308800
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma, Everted lower lip vermilion, Co... OMIM:242300
Lipoid Proteinosis
Thick lower lip vermilion, Acne, Hyperkeratosis, High palate, Abnormality of the gingiva, Thicken... ORPHA:530
Uv-Sensitive Syndrome 1
Telangiectasia, Dry skin, Cutaneous photosensitivity OMIM:600630
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema, Diffuse palmoplantar hyperkeratosis, Recurrent bacterial skin infections, Nonepi... ORPHA:495
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Cutaneous photosensitivity, Fragile skin, Palmoplantar hyperkeratosis, Crusting erythematous derm... ORPHA:158673
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Hyperkeratosis, Dry skin, Death in infancy, Ataxia, Erythroderma OMIM:609180
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Hypergra... ORPHA:2199
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Elastosis Perforans Serpiginosa
Cutis laxa, Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Pemphigus Foliaceus
Scaling skin, Pustule, Pruritus, Erythroderma, Skin vesicle, Acantholysis, Psoriasiform dermatiti... ORPHA:79481
Transaldolase Deficiency
Edema, Hydrops fetalis, Premature skin wrinkling, Telangiectasia ORPHA:101028
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Dry skin, Ataxia, Dysmetria, Xer... OMIM:618527
Cole Disease
Abnormal blood phosphate concentration, Hyperkeratosis, Abnormality of the dentition, Hypergranul... OMIM:615522
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Erythema Of Acral Regions
Erythema OMIM:227000
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Pruritus OMIM:105250
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology, Pruritus ORPHA:254478
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Death in early adulthood, Death in adolescence, Fragile skin, Palmopla... OMIM:605676
Keratolytic Winter Erythema
Erythema OMIM:148370
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Gingival overgrowth, Focal friction-related palmoplantar hyperkeratosis,... ORPHA:2200
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus ORPHA:409
Keratoderma Hereditarium Mutilans
Ichthyosis, Hyperkeratosis, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Self-injurious b... ORPHA:494
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Everted lower lip vermilion, Abnormal dental morphology ORPHA:2251
Classic Phenylketonuria
Hyperphenylalaninemia, Eczematoid dermatitis, Lack of skin elasticity, Attention deficit hyperact... ORPHA:79254
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal dental morphology, Parakeratosis, Superficial dermal perivascular inflammatory infiltrat... OMIM:618531
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Epidermal hyperkeratosis, Palmoplantar erythema, Plantar hyperkeratosis OMIM:104100
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Dry skin, Pruritus, Eczematoid dermatitis OMIM:618535
Familial Cold Urticaria
Polydipsia, Erythema, Dehydration, Urticaria, Pruritus ORPHA:47045
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Pili Torti-Onychodysplasia Syndrome
Generalized keratosis follicularis, Ectodermal dysplasia, Dry skin, Eczematoid dermatitis, Palmop... ORPHA:2890
Ichthyosis, Congenital, Autosomal Recessive 2
Congenital ichthyosiform erythroderma, Hyperkeratosis, Everted lower lip vermilion, Congenital no... OMIM:242100
Dermoodontodysplasia
Ectodermal dysplasia, Dry skin OMIM:125640
Alg8-Cdg
Hydrops fetalis, Premature skin wrinkling, Ascites, Cutis laxa, Ataxia, Edema, Oligohydramnios, I... ORPHA:79325
Hypotrichosis Simplex Of The Scalp
Scaling skin, Parakeratosis, Hyperkeratosis, Atopic dermatitis, Pruritus ORPHA:90368
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Dental crowding, Narrow mouth, Lack of skin elasticity OMIM:615381
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Thin ... OMIM:613576
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Thickened skin, Lack of skin elasticity ORPHA:2833
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Erythema, Eczematoid dermatitis, Edema, Pruritus OMIM:177000
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Tongue edema, Angioedema, Pharyngeal edema, Facial edema, Laryngeal edema, Erythema ORPHA:100057
Peeling Skin Syndrome 4
Scaling skin, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hyperkeratosis, Dry skin, Death in infancy, Inflammatory abnormality of the skin, Inc... OMIM:610768
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Self-injurious behavior, Parakeratosis, Agitation OMIM:618339
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat... OMIM:604117
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Werner Syndrome
Neoplasm of the oral cavity, Skin ulcer, Miscarriage, Hyperkeratosis, Lack of skin elasticity ORPHA:902
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor, Decreased circulating copper concentration ORPHA:209981
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Premature skin wrinkling ORPHA:631
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Prolidase Deficiency
Skin ulcer, Cutaneous photosensitivity, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratode... ORPHA:742
Riddle Syndrome
Ataxia, Dry skin OMIM:611943
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Olmsted Syndrome 2
Parakeratosis, Cheilitis, Perioral hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, P... OMIM:619208
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ... OMIM:601952
Necrobiosis Lipoidica
Skin ulcer, Fragile skin, Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema ORPHA:542592
Aplasia Cutis Congenita
Spinal dysraphism, Skin ulcer, Erythema ORPHA:1114
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Overjet, Thick lower lip vermilion, Short philtrum, Hyperactivity, Dental crowding, High palate, ... OMIM:618342
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Lichen Planopilaris
Neoplasm of the oral cavity, Hyperkeratosis, Skin ulcer, Pruritus ORPHA:525
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Palmoplantar hyperkera... OMIM:602540
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczematoid dermatitis ORPHA:2101
Acrokeratosis Verruciformis
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis OMIM:101900
Lymphatic Malformation 12
Polyhydramnios, Hyperkeratosis, Lymphedema, Death in adolescence, Neonatal death, Nonimmune hydro... OMIM:620014
Cdkl5-Deficiency Disorder
Everted lower lip vermilion, Stereotypical hand wringing, Inappropriate laughter, Thick vermilion... ORPHA:505652
Autosomal Erythropoietic Protoporphyria
Erythema, Cutaneous photosensitivity, Eczematoid dermatitis, Edema, Pruritus ORPHA:79278
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Conical tooth OMIM:618625
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema, Prominent superficial veins, Pedal edema OMIM:615907
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Trichothiodystrophy 6, Nonphotosensitive
Ichthyosis, Broad-based gait, Cutaneous photosensitivity, Dry skin, Mild intrauterine growth reta... OMIM:616943
Leopard Syndrome 3
Hyperkeratosis, Epidermal hyperkeratosis, Dry skin OMIM:613707
Myoclonic-Astatic Epilepsy
Premature skin wrinkling, Hyperactivity, Unsteady gait, Ataxia, Attention deficit hyperactivity d... ORPHA:1942
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Elevated circulating creatine kinase concentration, Follicular hyperkeratosis ORPHA:300179
Sézary Syndrome
Erythroderma, Dry skin, Palmoplantar keratoderma, Edema, Pruritus ORPHA:3162
Familial Cold Autoinflammatory Syndrome 3
Erythema, Angioedema, Cold urticaria, Dermatographic urticaria, Pruritus OMIM:614468
Pierpont Syndrome
Thin vermilion border, Widely spaced teeth, Long upper lip, Excessive wrinkling of palmar skin, E... ORPHA:487825
Pityriasis Rubra Pilaris
Ichthyosis, Abnormal oral cavity morphology, Erythroderma, Eczematoid dermatitis, Thickened skin,... ORPHA:2897
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Cutaneous photosensitivity, Follicu... OMIM:618546
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in... ORPHA:284426
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Flynn-Aird Syndrome
Carious teeth, Hyperkeratosis OMIM:136300
Netherton Syndrome
Ichthyosis, Acanthosis nigricans, Skin rash, Dehydration, Dry skin, Eczematoid dermatitis, Urtica... ORPHA:634
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Psoriasis 14, Pustular
Psoriasiform dermatitis, Parakeratosis, Pustule, Erythema OMIM:614204
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin, Umbilical hernia OMIM:274400
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin, Chilblains OMIM:612952
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Granulomatous Slack Skin
Cutis laxa, Redundant skin, Erythema ORPHA:33111
Antisynthetase Syndrome
Xerostomia, Skin rash, Elevated circulating creatine kinase concentration, Lack of skin elasticit... ORPHA:81
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Pruritus ORPHA:89843
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Purpura, Polyhydramnios, Ichthyosis, Petechiae, Hyperkeratosis, Narr... OMIM:608013
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Erythroderma, White scaling skin, Congenital nonbullous ichthyosiform erythroderma... OMIM:604777
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Erythema, Eczematoid dermatitis OMIM:254400
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplanta... OMIM:300918
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Long philtrum, D... ORPHA:261120
Hereditary Sensory And Autonomic Neuropathy Type 1
Steppage gait, Skin ulcer, Gait imbalance, Inability to walk, Hyperkeratosis, Penetrating foot ul... ORPHA:36386
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Hypodontia, Hyperkeratosis, Enamel hypoplasia, Dysphagia, Palmoplantar... OMIM:616029
Man1B1-Cdg
Short philtrum, Polyphagia, Cutis laxa, Eclabion, Thick vermilion border, Smooth philtrum, Thin u... ORPHA:397941
Dermatitis Herpetiformis
Eczematoid dermatitis, Urticaria, Pruritus, Edema, Skin vesicle, Erythema ORPHA:1656
Warty Dyskeratoma
Abnormal hard palate morphology, Neoplasm of the tongue, Abnormal alveolar ridge morphology, Epid... ORPHA:69745
Leri Pleonosteosis
Thickened skin, Lack of skin elasticity ORPHA:2900
Iga Pemphigus
Skin vesicle, Pustule, Pruritus, Neutrophilic infiltration of the skin, Acantholysis, Cutaneous a... ORPHA:555905
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Prematurely aged appearance, Dry skin ORPHA:2617
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Chronic Mucocutaneous Candidiasis
Skin ulcer, Erythema, Hyperkeratosis, Skin rash, Pruritus ORPHA:1334
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Broad-based gait OMIM:614450
Cutis Laxa, Autosomal Recessive, Type Iib
Excessive wrinkled skin, Redundant skin, High palate, Lack of skin elasticity, Long philtrum OMIM:612940
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Peau d'orange, Dry skin, Death in infancy, Intrauterine growth retardation OMIM:614576
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Thin vermilion border, Everted lower lip vermilion, Smooth philtrum ORPHA:73273
Complex Regional Pain Syndrome
Edema of the upper limbs, Pedal edema, Dry skin, Erythema ORPHA:83452
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Urticaria, Psoriasiform dermatitis, Pruritus ORPHA:703
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Dry skin, Overfriendliness, Aggressive behavior OMIM:618010
Darier Disease
Thickened skin, Acrokeratosis, Palmoplantar keratoderma, Skin vesicle, Pruritus, Subungual hyperk... ORPHA:218
Macs Syndrome
Palpebral edema, Ichthyosis, Hyperextensible skin, Recurrent aphthous stomatitis, Redundant skin,... OMIM:613075
Proteus Syndrome
Hyperkeratosis, Open mouth OMIM:176920
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Ectodermal dysplasia, Dry skin OMIM:600906
Mednik Syndrome
Hyperkeratosis, Ichthyosis, Decreased circulating ceruloplasmin concentration, Decreased circulat... ORPHA:171851
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Jaundice, Ichthyosis, Dry skin, Orthokeratosis, Pruritus OMIM:607626
C1Q Deficiency 2
Facial erythema, Malar rash, Discoid lupus rash, Chilblains, Vasculitis in the skin OMIM:620321
Intellectual Developmental Disorder, X-Linked 19
Dental crowding, Thick lower lip vermilion, Everted lower lip vermilion OMIM:300844
Rhizomelic Chondrodysplasia Punctata
Ichthyosis, Dry skin, Spina bifida occulta ORPHA:177
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Abnormality of the dentition, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratotic papul... ORPHA:79397
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis, Increased erythrocyte protoporphyrin concentration, Atopic dermatitis OMIM:620483
Subacute Cutaneous Lupus Erythematosus
Cheilitis, Psoriasiform lesion, Malar rash, Hyperkeratosis, Discoid lupus rash ORPHA:163525
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Dry skin, Eczematoid dermatitis, Ataxia, Aggressive behavior OMIM:620191
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Petechiae, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Thicken... OMIM:620331
Odontoonychodermal Dysplasia
Erythema, Dry skin, Palmoplantar erythema, Palmoplantar hyperkeratosis, Hypergranulosis, Orthoker... OMIM:257980
Xeroderma Pigmentosum Variant
Telangiectasia, Dry skin, Cutaneous photosensitivity ORPHA:90342
Snakebite Envenomation
Neuromuscular dysphagia, Angioedema, Ecchymosis, Edema, Erythema, Pseudobulbar paralysis ORPHA:449285
Atelis Syndrome 1
Attention deficit hyperactivity disorder, Dry skin, Eczematoid dermatitis OMIM:620184
Centrifugal Lipodystrophy
Scaling skin, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, Inflammatory ... ORPHA:90156
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hyperextensible skin, Blepharochalasis, Gingival hyperkeratosis, Redundant skin, Gingival overgro... OMIM:225410
Pseudoxanthoma Elasticum
Hyperextensible skin, Excessive wrinkled skin, Skin rash, High palate, Lack of skin elasticity, A... ORPHA:758
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger onto the palm, Palmopl... OMIM:148700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Dry skin, Atopic dermatitis, Eczemat... OMIM:618282
8Q22.1 Microdeletion Syndrome
Long philtrum, Submucous cleft hard palate, Abnormality of the dentition, Lack of skin elasticity ORPHA:178303
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Acanthosis nigricans, Dry skin ORPHA:3085
Autosomal Dominant Prognathism
Open bite, Everted lower lip vermilion ORPHA:2964
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin, Umbilical hernia OMIM:275100
Nicolaides-Baraitser Syndrome
Thin vermilion border, High, narrow palate, Excessive wrinkled skin, Everted lower lip vermilion,... ORPHA:3051
Developmental And Epileptic Encephalopathy 88
Hyperglutamatemia, Everted lower lip vermilion OMIM:618959
Ichthyosis Prematurity Syndrome
Polyhydramnios, Generalized ichthyosis, Erythroderma, Dermatographic urticaria, Pruritus, Follicu... OMIM:608649
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Dry skin, Motor stereotypy OMIM:620502
Acrogeria
Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin, Telangiectasia of the skin ORPHA:2500
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Acute Generalized Exanthematous Pustulosis
Scaling skin, Cheilitis, Purpura, Facial edema, Predominantly dermal neutrophilic infiltrate, Pus... ORPHA:293173
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ectodermal dysplasia, Dry skin OMIM:129490
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Neu-Laxova Syndrome
Polyhydramnios, Ichthyosis, Abnormality of the philtrum, Everted lower lip vermilion, Cleft palat... ORPHA:2671
Dowling-Degos Disease
Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Pruritus, Acne inversa ORPHA:79145
Darier-White Disease
Acrokeratosis, Acantholysis, Subungual hyperkeratotic fragments, Pruritus, Enlargement of parotid... OMIM:124200
Meige Disease
Edema of the dorsum of hands, Skin ulcer, Predominantly lower limb lymphedema, Lymphedema, Pleura... ORPHA:90186
Congenital Heart Defects And Ectodermal Dysplasia
Attention deficit hyperactivity disorder, Dry skin OMIM:617364
Acrokeratosis Verruciformis Of Hopf
Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis ORPHA:79151
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Palmoplantar keratoderma, Facial erythema, Folliculitis OMIM:612843
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Thickened skin, Skin ulcer, Erythema ORPHA:659
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Erythroderma, Hypergranulosis, Hypernatremia, Hypoalbuminemia, Palmoplantar keratoder... OMIM:615508
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Pierpont Syndrome
Thin vermilion border, Widely spaced teeth, Long upper lip, Prominent median palatal raphe, Evert... OMIM:602342
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Dry skin, Umbilical hernia ORPHA:95715
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Dermal translucency, Premature skin wrinkling, Intrauterine growth retardation OMIM:616603
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Erythema ORPHA:79099
Bone Marrow Failure Syndrome 4
Dry skin, Eczematoid dermatitis OMIM:618116
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis, Fragile skin OMIM:620415
Ichthyosis, Congenital, Autosomal Recessive 4B
Congenital ichthyosiform erythroderma, Neonatal death, Everted lower lip vermilion, Death in infancy OMIM:242500
Dermoodontodysplasia
Ectodermal dysplasia, Dry skin ORPHA:1660
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Redundant skin, Eczematoid dermatitis, Palmoplantar hyperkeratosis, Flushi... OMIM:259100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Everted lower lip vermilion, Short philtrum, Thin upper lip vermilion ORPHA:2429
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Abnormality of the dentition, Hyperlipidemia, Lack of skin elasticity ORPHA:90153
Trichothiodystrophy 1, Photosensitive
Cutaneous photosensitivity, Hyperkeratosis, Dry skin, Death in infancy, Congenital nonbullous ich... OMIM:601675
Autoinflammation With Arthritis And Dyskeratosis
Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis OMIM:617388
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Anodontia, Everted lower lip vermilion ORPHA:276630
Noonan Syndrome 8
Polyhydramnios, Hyperextensible skin, Hyperkeratosis, Pleural effusion, Eczematoid dermatitis, Pa... OMIM:615355
Tylosis With Esophageal Cancer
Parakeratosis, Oral leukoplakia, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Olmsted Syndrome 1
Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Subungual hyperkeratosis, Palmop... OMIM:614594
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Umbilical hernia ORPHA:1035
Craniofaciofrontodigital Syndrome
Polyhydramnios, Premature skin wrinkling, Cutis laxa, Lower eyelid edema, Pericardial effusion, E... ORPHA:363705
Cog7-Cdg
Jaundice, Excessive wrinkled skin ORPHA:79333
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion, Abnormality of the dentition OMIM:616298
Cog5-Cdg
Intrauterine growth retardation, Truncal ataxia, Oligohydramnios, Premature skin wrinkling ORPHA:263487
Smith-Magenis Syndrome
Hypertriglyceridemia, Orofacial cleft, Everted upper lip vermilion, Hyperactivity, Head-banging, ... OMIM:182290
Developmental And Epileptic Encephalopathy 23
Thick vermilion border, Everted lower lip vermilion, Short philtrum OMIM:615859
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis ORPHA:38
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Palmoplantar keratoderma, Dry skin, Conjunctival telangiectasia, Scaling skin OMIM:618373
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Baralle-Macken Syndrome
High, narrow palate, Acanthosis nigricans, Striae distensae OMIM:619255
Sunct Syndrome
Palpebral edema, Facial erythema, Agitation, Restlessness, Facial edema, Flushing ORPHA:57145
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Eczematoid dermatitis, Cleft palate, Natal tooth, Subungual hyperkeratosis, Ortho... OMIM:617337
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis ORPHA:281090
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
2Q23.1 Microdeletion Syndrome
Hyperactivity, Everted lower lip vermilion, Polyphagia, Tented upper lip vermilion, Open mouth, M... ORPHA:228402
Kanzaki Disease
Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Petechiae... OMIM:609242
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema, Cerebral edema, Inability to walk ORPHA:439218
Fixed Drug Eruption
Generalized abnormality of skin, Crusting erythematous dermatitis, Erythema ORPHA:293812
Aicardi-Goutieres Syndrome 1
Purpura, Inability to walk, Petechiae, Chilblains, Prolonged neonatal jaundice, Acrocyanosis, Sel... OMIM:225750
Short Syndrome
Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Premature skin wrinkling, P... OMIM:269880
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Erythema, Cutaneous photosensitivity OMIM:278760
Radio-Tartaglia Syndrome
Gait imbalance, Dry skin, Impulsivity, Ataxia, Dysphagia, Motor stereotypy, Attention deficit hyp... OMIM:619312
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Omenn Syndrome
Erythroderma, Dry skin, Thickened skin, Edema, Pruritus ORPHA:39041
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perioral erythema, Pustule, Erythroderma, Perianal erythema OMIM:614328
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Death in childhood, Skin rash, Gait ataxia, Cerebral edema, Ataxia, Lethargy, Erythema, Aggressiv... OMIM:618321
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Dry skin, Aggressive behavior OMIM:300860
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... OMIM:618729
Cofs Syndrome
Everted lower lip vermilion, Death in infancy ORPHA:1466
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Chromomycosis
Abnormal oral cavity morphology, Hyperparakeratosis, Predominantly lower limb lymphedema, Hyperke... ORPHA:182
Adiposis Dolorosa
Dry skin, Telangiectasia of the skin, Bruising susceptibility, Recurrent skin infections, Xerostomia ORPHA:36397
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormality of the dentition, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Scaling skin, Facial erythema, Meningocele, Dry skin, Sclerodactyly, Palmoplantar keratoderma, Po... ORPHA:1010
Non-Distal Duplication 10Q
High palate, Everted lower lip vermilion ORPHA:1695
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Dry skin, Perianal erythema, Ataxia, Lethargy OMIM:201100
Pachyonychia Congenita 1
Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Severe Intellectual Disability And Progressive Spastic Paraplegia
Everted upper lip vermilion, Short philtrum, High palate, Wide mouth, Motor stereotypy ORPHA:280763
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Naegeli-Franceschetti-Jadassohn Syndrome
Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry skin, Subungual hyperkerat... ORPHA:69087
Immunoglobulin A Vasculitis
Anorexia, Purpura, Skin ulcer, Vascular skin abnormality, Skin rash, Angioedema, Urticaria, Pustu... ORPHA:761
Polyarteritis Nodosa
Cutis marmorata, Erythema, Skin ulcer ORPHA:767
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Acanthosis nigricans, Dry skin OMIM:268020
Maxillonasal Dysplasia
Open bite, Microdontia, Tooth agenesis, Cleft palate, Striae distensae ORPHA:1248
Peroxisome Biogenesis Disorder 14B
Loss of ambulation, Dry skin OMIM:614920
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor, Congenital ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:602400
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip vermilion, Cleft lip OMIM:616898
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis, Erosion of oral mucosa, Oral mucosal blisters ORPHA:704
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Skin rash, Pustular rash, Pustule, Cutis marmorata, Telangiectasia, Erythema, Livedo ... OMIM:615934
Pemphigus Erythematosus
Malar rash, Oral ulcer, Acantholysis ORPHA:79480
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Abnormality of the dentition, Dry skin, Tooth agenesis, Abnormal dental morpholog... ORPHA:238468
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Polyhydramnios, Dry skin, Aggressive behavior OMIM:619075
Aarskog-Scott Syndrome
Orofacial cleft, Hyperextensible skin, Delayed eruption of teeth, Abnormality of the dentition, E... ORPHA:915
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Long philtrum, Wide mouth, Everted lower lip vermilion, Thin upper lip vermilion OMIM:619595
Kleefstra Syndrome 2
Self-injurious behavior, Bifid uvula, Everted lower lip vermilion OMIM:617768
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Narrow mouth, Everted lower lip vermilion, Downturned corners of mouth, Cleft pala... OMIM:618089
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Squalene Synthase Deficiency
Intrauterine growth retardation, Hypocholesterolemia, Dry skin, Cutaneous photosensitivity OMIM:618156
Monilethrix
Abnormality of the dentition, Follicular hyperkeratosis ORPHA:573
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Wide mouth, Short philtrum, Death in infancy ORPHA:163966
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Oligodontia, Everted lower lip ... OMIM:224900
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Carious teeth, Oral mucosal blisters, Skin vesicle, Hyperkeratotic papule, Pruritus ORPHA:79410
Distal Duplication 6P
Intrauterine growth retardation, Dry skin ORPHA:1745
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Sclerodactyly, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Pre... OMIM:610644
Familial Melanoma
Dry skin ORPHA:618
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thick lower lip vermilion, Hyperactivity, Everted lower lip vermilion, Wide mouth, Tented upper l... OMIM:620075
Acrodermatitis Enteropathica
Generalized abnormality of skin, Anorexia, Skin ulcer, Dry skin, Pustule, Erythema ORPHA:37
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Natal tooth, Neonatal death OMIM:609638
Mitral Valve Prolapse 1
High, narrow palate, High palate, Striae distensae OMIM:157700
Noonan Syndrome 13
Head-banging, Lymphedema, Dry skin, Attention deficit hyperactivity disorder, Bruising susceptibi... OMIM:619087
Mucolipidosis Type Iv
Palmoplantar keratoderma, Everted lower lip vermilion, Microdontia ORPHA:578
Geroderma Osteodysplasticum
Cutis laxa, Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial ... OMIM:231070
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Dry skin, Congenital nonbullous ichthyosiform erythroderma, Cerebral edema, Intrauterine growth r... OMIM:620510
8Q12 Microduplication Syndrome
Long philtrum, Attention deficit hyperactivity disorder, Narrow mouth, Everted lower lip vermilion ORPHA:228399
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Urticaria, Ataxia, Acrocyanosis, Erythema ORPHA:343
Fountain Syndrome
Spina bifida occulta, Spina bifida, Cutis marmorata, Facial edema, Erythema ORPHA:3219
Milroy Disease
Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, Pedal edema ORPHA:79452
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Long philtrum, Attention deficit hyperactivity disorder, Everted lower lip vermilion, Short philtrum OMIM:619556
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Rheumatic Fever
Anorexia, Pallor, Gait disturbance, Erythema ORPHA:3099
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Parakeratosis, Hyperkeratosis, Mild intrauterine growth retardation, Umbilical hernia... OMIM:308050
Ddost-Cdg
Dry skin ORPHA:300536
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Furrowed tongue, Gingival overgrowth ORPHA:1839
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Nicolaides-Baraitser Syndrome
Ichthyosis, Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Eczematoid d... OMIM:601358
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Wide mouth OMIM:615279
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Motor ... OMIM:618067
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Mo... ORPHA:411986
Agel Amyloidosis
Dermatological manifestations of systemic disorders, Xerostomia, Dry skin, Cutis laxa, Ataxia, Bl... ORPHA:85448
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Subcorneal Pustular Dermatosis
Pustule, Pruritus, Erythema ORPHA:48377
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Acanthosis nigricans, Dry skin OMIM:262190
Arthrogryposis Multiplex Congenita 5
Polyhydramnios, Akinesia, Premature skin wrinkling, Death in infancy, Umbilical hernia, Intrauter... OMIM:618947
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cleft palate, A... OMIM:619736
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Den Hoed-De Boer-Voisin Syndrome
Agitation, Inability to walk, Death in adolescence, Dry skin, Stereotypical hand wringing, Ataxia... OMIM:619229
Pituitary Adenoma 4, Acth-Secreting
Purpura, Facial erythema, Abnormal fear-induced behavior, Ecchymosis, Edema, Bruising susceptibil... OMIM:219090
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Acanthosis nigricans, Dysdiadochokine... OMIM:606721
Leopard Syndrome 2
Dry skin OMIM:611554
Juvenile Dermatomyositis
Palpebral edema, Skin ulcer, Cutaneous photosensitivity, Skin rash, Dry skin, Telangiectasia of t... ORPHA:93672
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Thick lower lip vermilion, Hyperactivity, Wide mouth, Macroglossia, Striae distensae, Aggressive ... OMIM:300354
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar kerato... ORPHA:189
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Hypophosphatemia ORPHA:2611
Incontinentia Pigmenti
Skin ulcer, Spina bifida occulta, Hyperkeratosis, Skin rash, Gait disturbance, Telangiectasia of ... ORPHA:464
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cutaneous photosensitivity, Prematurely aged appearance, Skin rash, Dry skin, Urticaria, Ataxia ORPHA:220295
Refsum Disease
Ichthyosis, Ataxia, Dry skin ORPHA:773
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Erythema, Pyoderma gangrenosum, Cystic acne OMIM:608068
Pachyonychia Congenita
Advanced eruption of teeth, Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in ... ORPHA:2309
Temple-Baraitser Syndrome
Everted upper lip vermilion, Delayed eruption of teeth, Gingival overgrowth, High palate, Everted... ORPHA:420561
German Syndrome
Orofacial cleft, Lymphedema, High palate, Everted lower lip vermilion, Dysphagia, Open mouth ORPHA:2077
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Inability to walk, Athetosis, Ataxia, Intrauterine growth retardation, P... ORPHA:357058
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Hyperkeratosis, Inflammatory abnormality of the skin, Telangiectasia ORPHA:454831
Immunodeficiency 55
Ichthyosis, Dry skin, Eczematoid dermatitis, Intrauterine growth retardation, Recurrent skin infe... OMIM:617827
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Everted lower lip vermilion OMIM:278200
Hereditary Acrokeratotic Poikiloderma
Skin ulcer, Ichthyosis, Xerostomia, Eczematoid dermatitis, Urticaria, Pustule, Telangiectasia of ... ORPHA:2907
Poikiloderma With Neutropenia
Long philtrum, Hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Car... OMIM:604173
Tangier Disease
Hypertriglyceridemia, Dry skin OMIM:205400
Weill-Marchesani Syndrome 2
Narrow palate, Tooth malposition, High palate, Abnormal dental morphology, Thickened skin, Lack o... OMIM:608328
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Dry skin, Umbilical hernia ORPHA:226313
Trichothiodystrophy 3, Photosensitive
Ichthyosis, Eclabion, Carious teeth, Natal tooth, Congenital nonbullous ichthyosiform erythroderm... OMIM:616395
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Hyperactivity, Exaggerated cupid's bow, Narrow mouth, Everted lower lip vermilion, Downturned cor... OMIM:619720
Xeroderma Pigmentosum
Cutaneous photosensitivity, Hyperkeratosis, Dry skin, Conjunctival telangiectasia, Thickened skin... ORPHA:910
Hengel-Maroofian-Schols Syndrome
Widely spaced teeth, Short philtrum, Tooth malposition, Everted lower lip vermilion, Thick vermil... OMIM:619641
Hennekam-Beemer Syndrome
Thickened skin, Urticaria, Telangiectasia of the skin, Pruritus, Skin vesicle, Erythema ORPHA:2135
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip vermilion ORPHA:1387
Cardiofaciocutaneous Syndrome
Ichthyosis, Excessive wrinkled skin, Hyperkeratosis, Redundant skin, Lymphedema, Dry skin, Palmop... ORPHA:1340
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Hyperextensible skin, Striae distensae OMIM:225310
Stuve-Wiedemann Syndrome 1
Premature skin wrinkling, Death in infancy, Dysphagia, Intrauterine growth retardation, Oligohydr... OMIM:601559
Netherton Syndrome
Parakeratosis, Eczematoid dermatitis, Angioedema, Urticaria, Congenital nonbullous ichthyosiform ... OMIM:256500
Mednik Syndrome
Ichthyosis, Death in childhood, Death in infancy, Neonatal death, Erythema OMIM:609313
Atypical Werner Syndrome
Hypertriglyceridemia, Thin vermilion border, Neoplasm of the oral cavity, Skin ulcer, Hyperkerato... ORPHA:79474
Angioedema, Hereditary, 1
Angioedema, Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Erythema OMIM:106100
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Ectodermal dysplasia, Dry skin OMIM:601701
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer, Abnormality of the dentition ORPHA:1806
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Widely spaced teeth, Tongue thrusting, Hyperactivity, Everted lower l... OMIM:617865
Noonan Syndrome 5
Polyhydramnios, Dry skin OMIM:611553
Dermatomyositis
Facial erythema, Skin ulcer, V-sign, Cutaneous photosensitivity, Periorbital edema, Skin rash, Dr... ORPHA:221
Hydroxykynureninuria
Dry skin, Motor stereotypy ORPHA:79155
Trichorhinophalangeal Syndrome, Type Iii
Supernumerary tooth, Dental crowding, Smooth philtrum, Long philtrum, Epidermal hyperkeratosis, T... OMIM:190351
Pachyonychia Congenita 3
Palmoplantar keratoderma, Gingivitis, Furrowed tongue, Oral leukoplakia, Palmar hyperkeratosis, C... OMIM:615726
Recon Progeroid Syndrome
Scaling skin, Progeroid facial appearance, Cutaneous photosensitivity, Dry skin, Livedo reticularis OMIM:620370
Fg Syndrome Type 1
Broad-based gait, Compulsive behaviors, Umbilical hernia, Attention deficit hyperactivity disorde... ORPHA:93932
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hyperkeratosis, Death in childhood OMIM:301108
Corneodermatoosseous Syndrome
Palmoplantar keratoderma, Thickened skin, Erythema ORPHA:3194
Toxic Epidermal Necrolysis
Polydipsia, Skin ulcer, Dysphagia, Acantholysis, Erythema ORPHA:537
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Long philtrum, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Abnormality of the dentition, Everted lower lip vermilion, Mic... ORPHA:1515
Spinocerebellar Ataxia 34
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Ataxia, Erythroderma, Epidermal hyperkeratosis OMIM:133190
Tetrasomy 12P
Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Downturn... ORPHA:884
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Elevated circulating C-reactive protein concentration, Stomatitis, Hyperkeratosis, Skin rash, Pus... OMIM:612852
Ataxia-Telangiectasia
Premature graying of hair, Prematurely aged appearance, Gait disturbance, Ataxia, Telangiectasia ... ORPHA:100
Uremic Pruritus
Generalized abnormality of skin, Dry skin, Inflammatory abnormality of the skin, Recurrent skin i... ORPHA:94059
Isolated Thyroid-Stimulating Hormone Deficiency
Dry skin, Prolonged neonatal jaundice, Umbilical hernia, Attention deficit hyperactivity disorder... ORPHA:90674
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Ascites, Telangiectasia ORPHA:284227
Geleophysic Dysplasia 1
Thickened skin, Wide mouth, Lack of skin elasticity, Smooth philtrum, Long philtrum, Thin upper l... OMIM:231050
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Hypertriglyceridemia, Premature skin wrinkling, Hypercholesterolemia, ... ORPHA:363618
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Molluscum contagiosum, Eczematoid dermatitis, Vasculitis in th... OMIM:615816
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Lymphedema, Nonimmune hydrops fetalis, Thick vermilion border, Epidermal hyperke... OMIM:137940
Xfe Progeroid Syndrome
Cutaneous photosensitivity, Prematurely aged appearance, Death in adolescence, Ascites, Dry skin OMIM:610965
Jung Syndrome
Dry skin ORPHA:2321
Atkin-Flaitz Syndrome