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Gene: Pnpla1 MGI:3617850

Gene Summary

Name:

patatin-like phospholipase domain containing 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
increased body length		Pnpla1^{tm1b(KOMP)Wtsi}	HET		Early adult	2.13×10^-05
preweaning lethality, incomplete penetrance		Pnpla1^{tm1b(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

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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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.

Human diseases associated with Pnpla1 (2 diseases)
Human diseases predicted to be associated with Pnpla1 (881 diseases)

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		Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Congenital Ichthyosiform Erythroderma		Pruritus, Palmoplantar keratoderma, Erythroderma, Ichthyosis	ORPHA:79394

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

Disease	Matching phenotypes	Source
Ulerythema Ophryogenesis	Acne, Miscarriage, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C...	ORPHA:3406
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal...	ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition	OMIM:617756
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Lamellar Ichthyosis	Abnormality of the dentition, Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyper...	ORPHA:313
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop...	ORPHA:530838
Huriez Syndrome	Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma	ORPHA:384
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Atrophoderma Vermiculata	Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Classic Mycosis Fungoides	Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin	ORPHA:2584
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma	OMIM:617524
Ichthyosis Vulgaris	Eczematoid dermatitis, Dry skin, Ichthyosis	OMIM:146700
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:461
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Anonychia With Flexural Pigmentation	Carious teeth, Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Dermatitis, Atopic	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos...	OMIM:603165
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Erythrokeratodermia Variabilis	Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous photosensitivi...	ORPHA:317
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk...	ORPHA:100976
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Ataxia-Photosensitivity-Short Stature Syndrome	Ataxia, Dry skin, Urticaria, Gait disturbance, Cutaneous photosensitivity	ORPHA:1184
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis	OMIM:248300
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:816
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b...	OMIM:607602
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Cutaneous photosensitivity, Dry skin	OMIM:617920
Dermatoleukodystrophy	Thickened skin, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
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
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Abnormality of the dentition, Pruritus, Oral mucosal blisters, Hyperkerat...	ORPHA:79399
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Cutaneous photosensitivity, Erythema	ORPHA:33314
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Vibratory Urticaria	Urticaria, Flushing, Facial erythema	OMIM:125630
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Thickened skin, Lack of skin elasticity, Palmoplantar keratoderma, Narrow mouth, Abnormal circula...	ORPHA:1979
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co...	OMIM:612281
Costello Syndrome	Redundant skin, Polyhydramnios, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3071
Harlequin Ichthyosis	Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Self-injurious be...	ORPHA:457
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Cutis laxa, Generalized ichthyosis, Scaling skin, Eclabion, Dry skin, Generalized hyperkeratosis	ORPHA:2269
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Peeling Skin Syndrome 3	Pruritus, Erythema, White scaling skin	OMIM:616265
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e...	OMIM:614457
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Death in infancy, Urticaria, Ichthyosis, Dry skin	ORPHA:1954
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters	ORPHA:89838
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Death in infancy, Erythema	OMIM:219095
Mastocytosis, Cutaneous	Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis	ORPHA:455
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 9	Eclabion, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Eryt...	OMIM:615023
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu...	ORPHA:79147
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe...	ORPHA:79455
Phenylketonuria	Hyperactivity, Eczema, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity...	OMIM:261600
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
Sydenham Chorea	Unsteady gait, Erythema, Inappropriate behavior, Compulsive behaviors	ORPHA:306731
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis, Erythema	ORPHA:83453
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
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
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Quinquaud Folliculitis Decalvans	Pustule, Erythema, Recurrent skin infections	ORPHA:346
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,...	ORPHA:90280
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura	ORPHA:889
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering...	ORPHA:158681
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i...	ORPHA:90159
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli...	OMIM:616295
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi...	ORPHA:166113
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Inability to walk, Dry skin, Follicular hyperkeratosis	OMIM:617066
Uv-Sensitive Syndrome 3	Cutaneous photosensitivity, Dry skin, Telangiectasia	OMIM:614640
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Maculopapular Cutaneous Mastocytosis	Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu...	ORPHA:79457
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin	OMIM:224750
Spinocerebellar Ataxia Type 34	Urticaria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait disturbance, Dry skin	ORPHA:1955
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb...	ORPHA:79395
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Dysphagia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:612379
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Lipoid Proteinosis	Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin, Abnormality of the gingiva, Thick...	ORPHA:530
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin	OMIM:308800
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Erythem...	ORPHA:100057
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Aggressive behavior	OMIM:247100
Uv-Sensitive Syndrome 1	Cutaneous photosensitivity, Dry skin, Telangiectasia	OMIM:600630
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Thickened skin, Diffuse palmoplantar...	ORPHA:495
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Ataxia, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin	OMIM:609180
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Cutaneou...	ORPHA:158673
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Ataxia, Xerostomia, Dysmetria, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, D...	OMIM:618527
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Erythema Of Acral Regions	Erythema	OMIM:227000
Transaldolase Deficiency	Premature skin wrinkling, Hydrops fetalis, Edema, Telangiectasia	ORPHA:101028
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology, Pruritus	ORPHA:254478
Keratolytic Winter Erythema	Erythema	OMIM:148370
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,...	OMIM:605676
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Gingival overgrowth, Focal friction-related palmoplantar hyperkeratosis...	ORPHA:2200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Abnormal dental morphology, Everted lower lip vermilion	ORPHA:2251
Keratoderma Hereditarium Mutilans	Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Self-injurious behavior, Ich...	ORPHA:494
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema	ORPHA:36237
Classic Phenylketonuria	Eczema, Lack of skin elasticity, Self-injurious behavior, Attention deficit hyperactivity disorde...	ORPHA:79254
Pili Torti-Onychodysplasia Syndrome	Eczema, Generalized keratosis follicularis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin	ORPHA:2890
Familial Cold Urticaria	Pruritus, Erythema, Dehydration, Urticaria, Polydipsia	ORPHA:47045
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke...	OMIM:242100
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Pruritus, Palmoplantar keratoderma, Eczema, Dry skin	OMIM:618535
Dermoodontodysplasia	Ectodermal dysplasia, Dry skin	OMIM:125640
Alg8-Cdg	Ataxia, Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Cutis laxa, Intrauterine ...	ORPHA:79325
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Dental crowding, Lack of skin elasticity, Narrow mouth	OMIM:615381
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous...	OMIM:613576
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis	OMIM:607936
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev...	OMIM:610768
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Eczema, Edema, Pruritus, Erythema	OMIM:177000
Keratosis Pilaris Atrophicans	Erythema	OMIM:604093
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior	OMIM:618339
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Trichothiodystrophy 6, Nonphotosensitive	Mild intrauterine growth retardation, Dry skin, Broad-based gait, Ichthyosis	OMIM:616943
Irida Syndrome	Hyperkeratosis, Decreased circulating copper concentration, Pallor, Ichthyosis	ORPHA:209981
Stiff Skin Syndrome	Thickened skin, Abnormal circulating lipid concentration, Lack of skin elasticity	ORPHA:2833
Werner Syndrome	Miscarriage, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Neoplasm of the oral cavity	ORPHA:902
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin	ORPHA:542592
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Prolidase Deficiency	Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Cutaneous photo...	ORPHA:742
Riddle Syndrome	Dry skin, Ataxia	OMIM:611943
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
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	Hyperactivity, Dental crowding, Persistence of primary teeth, Aggressive behavior, Thick lower li...	OMIM:618342
Lichen Planopilaris	Pruritus, Hyperkeratosis, Neoplasm of the oral cavity, Skin ulcer	ORPHA:525
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Abnormality of the dentition, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling...	ORPHA:90368
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo...	OMIM:602540
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis, Conical tooth	OMIM:618625
Autosomal Erythropoietic Protoporphyria	Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:79278
Dermatitis Herpetiformis	Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Leopard Syndrome 3	Hyperkeratosis, Dry skin, Epidermal hyperkeratosis	OMIM:613707
Cdkl5-Deficiency Disorder	Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Inappropriate laughter, Bruxi...	ORPHA:505652
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Hyperextensible skin, Elevated circulating creatine kinase concentration, Follicular hyperkeratosis	ORPHA:300179
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema	OMIM:615907
Sézary Syndrome	Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Dry skin	ORPHA:3162
Myoclonic-Astatic Epilepsy	Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Premature skin wr...	ORPHA:1942
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo...	ORPHA:487825
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Antisynthetase Syndrome	Skin rash, Elevated circulating creatine kinase concentration, Edema, Pruritus, Xerostomia, Lack ...	ORPHA:81
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Thyroid Dyshormonogenesis 1	Umbilical hernia, Dry skin, Lethargy	OMIM:274400
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Aicardi-Goutieres Syndrome 5	Chilblains, Dry skin, Scaling skin	OMIM:612952
Flynn-Aird Syndrome	Carious teeth, Hyperkeratosis	OMIM:136300
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling	OMIM:617950
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis	OMIM:615147
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Familial Cold Autoinflammatory Syndrome 3	Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria	OMIM:614468
Psoriasis 14, Pustular	Pustule, Parakeratosis, Erythema, Psoriasiform dermatitis	OMIM:614204
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Nonimmune hydrops fetalis, Polyhydramnios, Narrow mouth, Dysphagia, ...	OMIM:608013
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Netherton Syndrome	Skin rash, Eczema, Erythroderma, Dehydration, Urticaria, Congenital nonbullous ichthyosiform eryt...	ORPHA:634
Mycosis Fungoides	Pruritus, Erythema, Eczema, Psoriasiform dermatitis	OMIM:254400
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
14Q11.2 Microdeletion Syndrome	Exaggerated cupid's bow, Deep philtrum, Everted lower lip vermilion, High palate, Narrow mouth, L...	ORPHA:261120
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess	OMIM:147060
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Man1B1-Cdg	Thin upper lip vermilion, Cutis laxa, Thick vermilion border, Short philtrum, Eclabion, Polyphagi...	ORPHA:397941
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Inability to walk, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Stepp...	ORPHA:36386
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Leri Pleonosteosis	Thickened skin, Lack of skin elasticity	ORPHA:2900
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Hyperkeratosis, Palmoplantar keratoderma, Hypodontia, Dysphagia, Ename...	OMIM:616029
Warty Dyskeratoma	Abnormality of the alveolar ridges, Acrokeratosis, Acantholysis, Oral mucosa nodule, Epidermal th...	ORPHA:69745
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Dry skin, Prematurely aged appearance	ORPHA:2617
Hypothyroidism, Congenital, Nongoitrous, 6	Broad-based gait, Dry skin	OMIM:614450
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Oral mucosal blisters, Sk...	ORPHA:555905
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Cutis Laxa, Autosomal Recessive, Type Iib	Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, High palate, Long philtrum	OMIM:612940
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Hyperkeratosis, Peau d'orange, Intrauterine growth retardation, Dry skin	OMIM:614576
Proteus Syndrome	Hyperkeratosis, Open mouth	OMIM:176920
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Thin vermilion border, Everted lower lip vermilion, Smooth philtrum	ORPHA:73273
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis	ORPHA:1334
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk...	ORPHA:218
Mednik Syndrome	Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c...	ORPHA:171851
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Ectodermal dysplasia, Dry skin	OMIM:600906
Xeroderma Pigmentosum Variant	Cutaneous photosensitivity, Dry skin, Telangiectasia	ORPHA:90342
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Abnormal oral cavity morphology, Acantholysis	ORPHA:704
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Pruritus, Jaundice, Ichthyosis, Orthokeratosis, Dry skin	OMIM:607626
Rhizomelic Chondrodysplasia Punctata	Spina bifida occulta, Dry skin, Ichthyosis	ORPHA:177
Macs Syndrome	Eclabion, Irregular dentition, Palpebral edema, Redundant skin, Gingival overgrowth, Cutis laxa, ...	OMIM:613075
Intellectual Developmental Disorder, X-Linked 19	Thick lower lip vermilion, Dental crowding, Everted lower lip vermilion	OMIM:300844
Complex Regional Pain Syndrome	Edema of the upper limbs, Erythema, Dry skin, Pedal edema	ORPHA:83452
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Ataxia, Eczema, Aggressive behavior, Pica, Dry skin	OMIM:620191
Bullous Pemphigoid	Urticaria, Erythema, Eczema, Psoriasiform dermatitis	ORPHA:703
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash	OMIM:620321
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Frontal open bite, Gingival overgrowth, Gingival hyperkeratosis, Hyperextensible ...	OMIM:225410
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosi...	ORPHA:79397
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk...	OMIM:257980
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Lack of skin elasticity, Abnormality of the dentition	ORPHA:178303
Atelis Syndrome 1	Dry skin, Eczema, Attention deficit hyperactivity disorder	OMIM:620184
Snakebite Envenomation	Edema, Angioedema, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis	ORPHA:449285
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta...	ORPHA:90156
Ehlers-Danlos Syndrome, Hypermobility Type	Soft skin, Hyperextensible skin, Striae distensae	OMIM:130020
Hatipoglu Immunodeficiency Syndrome	Eczema, Poor wound healing, Thickened skin, Atopic dermatitis, Premature graying of hair, Intraut...	OMIM:620331
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Pseudoxanthoma Elasticum	Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Hyperextensible skin...	ORPHA:758
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	Umbilical hernia, Dry skin	OMIM:275100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis...	OMIM:618282
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Nicolaides-Baraitser Syndrome	Eczema, High, narrow palate, Wide mouth, Excessive wrinkled skin, Thin vermilion border, Everted ...	ORPHA:3051
Acrogeria	Telangiectasia of the skin, Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer	ORPHA:2500
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ectodermal dysplasia, Dry skin	OMIM:129490
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Ichthyosis Prematurity Syndrome	Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkerat...	OMIM:608649
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pruritus, Pustule, Chei...	ORPHA:293173
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Neu-Laxova Syndrome	Abnormality of the philtrum, Polyhydramnios, Submucous cleft hard palate, Lack of skin elasticity...	ORPHA:2671
Darier-White Disease	Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyperkeratotic fra...	OMIM:124200
Developmental And Epileptic Encephalopathy 88	Hyperglutamatemia, Everted lower lip vermilion	OMIM:618959
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin, Attention deficit hyperactivity disorder	OMIM:617364
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer	ORPHA:659
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Palmoplantar keratoderma, Facial erythema	OMIM:612843
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema	ORPHA:79099
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Smith-Magenis Syndrome	Everted upper lip vermilion, Hypertriglyceridemia, Hyperactivity, Abnormality of the dentition, V...	OMIM:182290
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit...	OMIM:259100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, High palate, Lack of skin elasticity, Abnormality of the dentition	ORPHA:90153
Pierpont Syndrome	Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever...	OMIM:602342
Cutis Laxa, Autosomal Dominant 3	Intrauterine growth retardation, Premature skin wrinkling, Cutis laxa, Dermal translucency	OMIM:616603
Dermoodontodysplasia	Ectodermal dysplasia, Dry skin	ORPHA:1660
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma, Everted lower lip vermilion	OMIM:242500
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum	ORPHA:2429
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Oral leukoplakia, Follicular hyperkeratosis	OMIM:148500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ...	OMIM:615508
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Noonan Syndrome 8	Eczema, Polyhydramnios, Hyperkeratosis, Hyperextensible skin, Palmoplantar cutis laxa, Pleural ef...	OMIM:615355
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Dry skin	ORPHA:1035
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Oligodontia, Everted lower lip vermilion, Anodontia	ORPHA:276630
Trichothiodystrophy 1, Photosensitive	Death in infancy, Telangiectasia, Hyperkeratosis, Cutaneous photosensitivity, Congenital nonbullo...	OMIM:601675
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, Cutis laxa, Lower eyeli...	ORPHA:363705
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Baralle-Macken Syndrome	Acanthosis nigricans, High, narrow palate, Striae distensae	OMIM:619255
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Palmoplantar keratoderma, Scaling skin, Dry skin	OMIM:618373
Cog7-Cdg	Excessive wrinkled skin, Jaundice	ORPHA:79333
Cog5-Cdg	Intrauterine growth retardation, Premature skin wrinkling, Truncal ataxia, Oligohydramnios	ORPHA:263487
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Developmental And Epileptic Encephalopathy 23	Thick vermilion border, Everted lower lip vermilion, Short philtrum	OMIM:615859
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Eczema, Cleft palate, Short philtrum, Orthokeratosis, Acne...	OMIM:617337
Aicardi-Goutieres Syndrome 1	Chilblains, Inability to walk, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilati...	OMIM:225750
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
2Q23.1 Microdeletion Syndrome	Hyperactivity, Tented upper lip vermilion, Macrodontia, Polyphagia, Self-injurious behavior, Ever...	ORPHA:228402
Xeroderma Pigmentosum, Complementation Group F	Cutaneous photosensitivity, Erythema, Ataxia	OMIM:278760
Sunct Syndrome	Restlessness, Palpebral edema, Facial edema, Facial erythema, Agitation, Flushing	ORPHA:57145
Fixed Drug Eruption	Erythema, Generalized abnormality of skin, Crusting erythematous dermatitis	ORPHA:293812
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:281090
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Gait imbalance, Attention deficit hyperactivity disorde...	OMIM:619312
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Omenn Syndrome	Edema, Pruritus, Thickened skin, Erythroderma, Dry skin	ORPHA:39041
Glutamine Deficiency, Congenital	Neonatal death, Erythema	OMIM:610015
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu...	OMIM:609242
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Perianal erythema, Perioral erythema, Erythroderma	OMIM:614328
Cofs Syndrome	Death in infancy, Everted lower lip vermilion	ORPHA:1466
Adiposis Dolorosa	Recurrent skin infections, Telangiectasia of the skin, Xerostomia, Dry skin, Bruising susceptibility	ORPHA:36397
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Squalene Synthase Deficiency	Intrauterine growth retardation, Cutaneous photosensitivity, Dry skin, Hypocholesterolemia	OMIM:618156
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Skin rash, Ataxia, Aggressive behavior, Erythema, Gait ataxia, Death in childhood, Lethargy, Cere...	OMIM:618321
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Poor wound healing, Meningocele, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry ski...	ORPHA:1010
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema	ORPHA:79279
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Dry skin, Aggressive behavior	OMIM:300860
Short Syndrome	Intrauterine growth retardation, Premature skin wrinkling, Prominent superficial veins	OMIM:269880
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Non-Distal Duplication 10Q	Everted lower lip vermilion, High palate	ORPHA:1695
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Perianal erythema, Perioral erythema, Lethargy, Dry skin	OMIM:201100
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat...	ORPHA:69087
Severe Intellectual Disability And Progressive Spastic Paraplegia	Everted upper lip vermilion, Wide mouth, High palate, Short philtrum, Abnormal repetitive mannerisms	ORPHA:280763
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Pachyonychia Congenita 1	Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Conical primary incisor	OMIM:602400
Maxillonasal Dysplasia	Open bite, Cleft palate, Tooth agenesis, Microdontia, Striae distensae	ORPHA:1248
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Umbilical hernia, Dry skin, Prolonged neonatal jaundice	ORPHA:95715
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Angular cheilitis, Follicular hyperkeratosis	OMIM:613102
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cleft palate, Orofacial...	ORPHA:915
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Acanthosis nigricans, Dry skin	OMIM:268020
Immunoglobulin A Vasculitis	Skin rash, Edema, Anorexia, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising suscep...	ORPHA:761
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum	OMIM:619595
Monilethrix	Follicular hyperkeratosis, Abnormality of the dentition	ORPHA:573
Geroderma Osteodysplasticum	Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ...	OMIM:231070
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion,...	OMIM:618089
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Everted upper lip vermilion, Conical tooth, Oligodontia, Thick vermilion border, Periorbital wrin...	OMIM:224900
Pemphigus Erythematosus	Malar rash, Oral ulcer, Acantholysis	ORPHA:79480
Distal Duplication 6P	Intrauterine growth retardation, Dry skin	ORPHA:1745
Sting-Associated Vasculopathy, Infantile-Onset	Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangiectasia, Pustular rash,...	OMIM:615934
Bachmann-Bupp Syndrome	Attention deficit hyperactivity disorder, Dry skin, Polyhydramnios, Aggressive behavior	OMIM:619075
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Wide mouth, Hyperkeratosis, Short philtrum, Death in infancy	ORPHA:163966
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion	OMIM:616898
Familial Melanoma	Dry skin	ORPHA:618
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Premature loss of permanent teeth, Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplan...	OMIM:610644
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Thick l...	OMIM:620075
Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Eczema, Abnormality of the dentition, Xerostomia, Hyperkeratosis, Too...	ORPHA:238468
Noonan Syndrome 13	Aggressive behavior, Lymphedema, Head-banging, Attention deficit hyperactivity disorder, Dry skin...	OMIM:619087
Mitral Valve Prolapse 1	High, narrow palate, High palate, Striae distensae	OMIM:157700
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Kleefstra Syndrome 2	Self-injurious behavior, Everted lower lip vermilion, Bifid uvula	OMIM:617768
Acrodermatitis Enteropathica	Anorexia, Pustule, Erythema, Skin ulcer, Dry skin, Generalized abnormality of skin	ORPHA:37
Mucolipidosis Type Iv	Microdontia, Palmoplantar keratoderma, Everted lower lip vermilion	ORPHA:578
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Natal tooth, Acantholysis	OMIM:609638
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Rheumatic Fever	Erythema, Gait disturbance, Pallor, Anorexia	ORPHA:3099
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule	ORPHA:48377
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Erythema, Hyperkeratosis, Mild intrauterine growth retardation, Congenital ichthyo...	OMIM:308050
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Everted lower lip vermilion, Short philtrum, Attention deficit hyperactivity disorder, Long philtrum	OMIM:619556
8Q12 Microduplication Syndrome	Long philtrum, Everted lower lip vermilion, Attention deficit hyperactivity disorder, Narrow mouth	ORPHA:228399
Fountain Syndrome	Cutis marmorata, Spina bifida, Facial edema, Erythema, Spina bifida occulta	ORPHA:3219
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Short philtrum, Ab...	ORPHA:411986
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Ddost-Cdg	Dry skin	ORPHA:300536
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Hyperkeratosis	ORPHA:1883
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Acanthosis nigricans, Dry skin	OMIM:262190
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Cardiofaciocutaneous Syndrome 3	Wide mouth, Hyperkeratosis	OMIM:615279
Arthrogryposis Multiplex Congenita 5	Death in infancy, Akinesia, Polyhydramnios, Umbilical hernia, Premature skin wrinkling, Intrauter...	OMIM:618947
Den Hoed-De Boer-Voisin Syndrome	Ataxia, Inability to walk, Death in adolescence, Agitation, Dysphagia, Intrauterine growth retard...	OMIM:619229
Agel Amyloidosis	Ataxia, Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin, Dermatological manif...	ORPHA:85448
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
Juvenile Dermatomyositis	Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Cutaneous...	ORPHA:93672
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Thick lower lip vermilion, Wide mouth, Macroglossia, Striae d...	OMIM:300354
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Leopard Syndrome 2	Dry skin	OMIM:611554
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Nicolaides-Baraitser Syndrome	Eczema, Aggressive behavior, Gait ataxia, Excessive wrinkled skin, Periorbital wrinkles, Attentio...	OMIM:601358
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Hypophosphatemia	ORPHA:2611
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa	OMIM:608068
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Skin rash, Ataxia, Urticaria, Cutaneous photosensitivity, Dry skin	ORPHA:220295
Refsum Disease	Dry skin, Ataxia, Ichthyosis	ORPHA:773
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop...	ORPHA:2309
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Decreased adipose tissue around neck, ...	OMIM:606721
Incontinentia Pigmenti	Skin rash, Telangiectasia of the skin, Erythema, Skin ulcer, Hyperkeratosis, Gait disturbance, At...	ORPHA:464
Immunodeficiency 55	Recurrent skin infections, Eczema, Ichthyosis, Intrauterine growth retardation, Dry skin	OMIM:617827
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Umbilical hernia, Dry skin, Prolonged neonatal jaundice	ORPHA:226313
German Syndrome	Lymphedema, Orofacial cleft, Everted lower lip vermilion, High palate, Dysphagia, Open mouth	ORPHA:2077
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Everted lower lip vermilion	OMIM:278200
Tangier Disease	Dry skin, Hypertriglyceridemia	OMIM:205400
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyos...	OMIM:616395
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin	ORPHA:454831
Xeroderma Pigmentosum	Conjunctival telangiectasia, Ataxia, Telangiectasia of the skin, Thickened skin, Erythema, Telang...	ORPHA:910
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema	OMIM:106100
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Car...	OMIM:604173
Atypical Werner Syndrome	Hypertriglyceridemia, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Thin vermilion border,...	ORPHA:79474
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyper...	ORPHA:2907
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Progeroid facial appearance, Inability to walk, Excessive wrinkled skin, Athetosis, Intra...	ORPHA:357058
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Tented upper lip vermilion, Exaggerated cupid's bow, Narrow mouth, Deep philtrum, ...	OMIM:619720
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pruritus, Thickened skin, Erythema, Urticaria, Skin vesicle	ORPHA:2135
Cardiofaciocutaneous Syndrome	Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis, Palmoplantar keratoderma, Ic...	ORPHA:1340
Geleophysic Dysplasia 1	Thickened skin, Lack of skin elasticity, Wide mouth, Long philtrum, Smooth philtrum	OMIM:231050
Cataract-Intellectual Disability-Hypogonadism Syndrome	Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition	ORPHA:1387
Mednik Syndrome	Death in infancy, Erythema, Ichthyosis, Death in childhood, Neonatal death	OMIM:609313
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Ectodermal dysplasia, Dry skin	OMIM:601701
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer, Abnormality of the dentition	ORPHA:1806
Noonan Syndrome 5	Dry skin, Polyhydramnios	OMIM:611553
Recon Progeroid Syndrome	Progeroid facial appearance, Livedo reticularis, Dry skin, Scaling skin, Cutaneous photosensitivity	OMIM:620370
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, E...	OMIM:617865
Hengel-Maroofian-Schols Syndrome	Thick vermilion border, Short philtrum, Widely spaced teeth, Everted lower lip vermilion, Tooth m...	OMIM:619641
Weill-Marchesani Syndrome 2	Thickened skin, Lack of skin elasticity, Narrow palate, High palate, Tooth malposition, Striae di...	OMIM:608328
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli...	OMIM:615726
Adult-Onset Still Disease	Pruritus, Joint swelling, Erythema, Skin rash	ORPHA:829
Fg Syndrome Type 1	Broad-based gait, Facial wrinkling, Compulsive behaviors, Attention deficit hyperactivity disorde...	ORPHA:93932
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Urticari...	OMIM:256500
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Hyperextensible skin, Petechiae, Striae distensae	OMIM:225310
Corneodermatoosseous Syndrome	Thickened skin, Erythema, Palmoplantar keratoderma	ORPHA:3194
Pituitary Adenoma 4, Acth-Secreting	Edema, Poor wound healing, Facial erythema, Ecchymosis, Bruising susceptibility, Striae distensae...	OMIM:219090
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Hydroxykynureninuria	Dry skin, Abnormal repetitive mannerisms	ORPHA:79155
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Long philtrum	OMIM:615225
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Spinocerebellar Ataxia 34	Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma	OMIM:133190
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ...	ORPHA:94059
Ataxia-Telangiectasia	Prematurely aged appearance, Ataxia, Telangiectasia of the skin, Premature graying of hair, Gait ...	ORPHA:100
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Hyperkeratosis, Joint ...	OMIM:612852
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia, Premature graying of hair, Scleroderma, Premature ski...	ORPHA:363618
Ameloonychohypohidrotic Syndrome	Dry skin, Seborrheic dermatitis	OMIM:104570
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Facial edema, Attention deficit hyperactivity disorder, Prolonged neonatal ...	ORPHA:90674
Toxic Epidermal Necrolysis	Acantholysis, Erythema, Skin ulcer, Dysphagia, Polydipsia	ORPHA:537
Jung Syndrome	Dry skin	ORPHA:2321
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema	ORPHA:284227
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin upper lip vermilion, Thin vermilion border, Everted lower lip vermilion, High palate, Short ...	ORPHA:3041
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Nizon-Isidor Syndrome	Thin upper lip vermilion, Aggressive behavior, High, narrow palate, Upper eyelid edema, Downturne...	OMIM:618872
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating...	OMIM:610475
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Thick vermilion...	OMIM:137940
Coffin-Lowry Syndrome	Delayed eruption of teeth, Death in early adulthood, Abnormal dental morphology, Redundant skin, ...	ORPHA:192
Familial Cervical Artery Dissection	Abnormal circulating lipid concentration, Striae distensae	ORPHA:36382
Stuve-Wiedemann Syndrome 1	Death in infancy, Premature skin wrinkling, Dysphagia, Oligohydramnios	OMIM:601559
Aicardi-Goutieres Syndrome 9	Chilblains, Edema, Pericardial effusion, Ascites, Intrauterine growth retardation, Dry skin, Self...	OMIM:619487
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Sialidosis Type 1	Hyperkeratosis, Ataxia, Gait disturbance, Vascular skin abnormality	ORPHA:812
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Perianal erythema, Eczema, R...	OMIM:308205
Xfe Progeroid Syndrome	Prematurely aged appearance, Dry skin, Death in adolescence, Cutaneous photosensitivity, Ascites	OMIM:610965
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Pruritus, Carious teeth, Palmoplantar keratoderma, Skin vesicle, Enamel hy...	ORPHA:79410
Immunodeficiency 23	Ataxia, Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum co...	OMIM:615816
Pearson Marrow-Pancreas Syndrome	Anorexia, Erythema, Hydrops fetalis, Dehydration, Death in childhood, Pallor, Steatorrhea, Lethargy	OMIM:557000
Microscopic Polyangiitis	Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage	ORPHA:727
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Everted lower lip vermilion, Ichthyosis	OMIM:242510
Donohue Syndrome	Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Hyperkeratosis, Acanthosis nigricans	OMIM:246200
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Increased number of skin folds, Redundant skin, Cutis laxa	ORPHA:436274
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Cleft palat...	ORPHA:96169
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	High, narrow palate, Thick vermilion border, Everted lower lip vermilion, Short philtrum, Long ph...	OMIM:619880
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Tented upper lip vermilion, Everted lower lip vermilion, High palate, S...	OMIM:616579
Mesoaxial Hexadactyly And Cardiac Malformation	Everted lower lip vermilion	OMIM:249670
Intellectual Developmental Disorder, Autosomal Recessive 35	Downturned corners of mouth, Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum	OMIM:615162
Thanatophoric Dysplasia Type 1	Redundant skin, Polyhydramnios, Increased nuchal translucency, Excessive wrinkled skin, Acanthosi...	ORPHA:1860
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Non-Distal Duplication 13Q	Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip vermilion, Lo...	ORPHA:1702
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Athetosis, Intrauterine growth ...	OMIM:614438
Alg11-Cdg	Dry skin, Ataxia	ORPHA:280071
9P13 Microdeletion Syndrome	Umbilical hernia, Dry skin, Attention deficit hyperactivity disorder, Bruxism	ORPHA:324313
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Angioedema, Erythema, Erythroderma	ORPHA:139402
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Intrauterine growth retardation, Progeroid facial appearance	ORPHA:50811
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Deep philtrum, Downturned corners of mouth, Hyperextensible skin, Short phil...	OMIM:619950
Williams-Beuren Syndrome (WBS)	Microdontia, Everted lower lip vermilion	DECIPHER:3
Xq12-Q13.3 Duplication Syndrome	Eczema, Elevated circulating creatine kinase concentration, Bulimia, Agitation, Everted lower lip...	ORPHA:314389
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Cleft palate, Downturne...	OMIM:220500
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema	OMIM:619016
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Umb...	ORPHA:2963
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Intrauterine growth retardation, Dry skin, Ataxia	OMIM:613990
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Aggressive behavior, Wide mouth, Widely spaced teeth, Oligohydramnios	OMIM:619056
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Submucous cleft hard palate, High palate	OMIM:222765
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Deep philtrum, Pierre-Robin sequence, Ging...	OMIM:618381
Diencephalic Syndrome	Everted lower lip vermilion	ORPHA:1672
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor	OMIM:308300
Lig4 Syndrome	Cutaneous photosensitivity, Erythema, Telangiectasia of the skin	ORPHA:99812
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Abnormal dental morphology, Abnormality of the dentition,...	ORPHA:158668
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Dry skin	ORPHA:217346
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Everted lower lip vermilion, High palate, Long philtrum	OMIM:616549
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia, Cutaneo...	ORPHA:2908
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Furrowed tongue, Hyperkeratosis, Ichthyosis, Microdontia, Or...	OMIM:148210
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin, Aggressive behavior	OMIM:619244
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum	ORPHA:357175
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, F...	ORPHA:79396
Stevens-Johnson Syndrome	Erythema, Dysphagia, Acantholysis	ORPHA:36426
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Intrauterine growth retardation, Dry skin	OMIM:613026
Melanocytic Nevus Syndrome, Congenital	Deep philtrum, Everted lower lip vermilion, Open mouth, Long philtrum	OMIM:137550
Acth-Independent Macronodular Adrenal Hyperplasia	Primary hypercortisolism, Increased circulating cortisol level, Agitation, Striae distensae	OMIM:219080
Neutral Lipid Storage Disease With Ichthyosis	Eclabion, Hypertriglyceridemia, Congenital nonbullous ichthyosiform erythroderma, Abnormal circul...	ORPHA:98907
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Dry skin, Prolonged neonatal jaundice	ORPHA:99832
Trichothiodystrophy	Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Gait ataxia, Cutaneous ...	ORPHA:33364
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Dry skin, Gait disturbance, Polyhydramnios	ORPHA:1812
Intellectual Developmental Disorder, Autosomal Dominant 1	Thin upper lip vermilion, Aggressive behavior, Downturned corners of mouth, Macroglossia, Wide mo...	OMIM:156200
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Mildly elevated c...	OMIM:617982
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Megalocornea-Intellectual Disability Syndrome	Everted lower lip vermilion, High palate, Short philtrum, Hypercholesterolemia, Open mouth, Abnor...	ORPHA:2479
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Gingival overgrowth, Wide mouth, T...	OMIM:212066
Hoyeraal-Hreidarsson Syndrome	Excessive wrinkled skin, Intrauterine growth retardation, Ataxia, Premature graying of hair	ORPHA:3322
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythema, Skin ulc...	ORPHA:3474
Proximal Xq28 Duplication Syndrome	Tented upper lip vermilion, Everted lower lip vermilion	ORPHA:1762
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a...	OMIM:612289
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, U-Shape...	OMIM:619980
Uruguay Faciocardiomusculoskeletal Syndrome	Everted lower lip vermilion, Thick vermilion border, Elevated circulating creatine kinase concent...	OMIM:300280
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Tongue thrusting, Self-injurious behavior, Stereotypical body rocking, Bruxism, Dr...	ORPHA:261323
Lethal Acantholytic Erosive Disorder	Natal tooth, Oligohydramnios, Cleft palate, Acantholysis	ORPHA:158687
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Ectodermal dysplasia, Dry skin, Xerostomia, Periorbital wrinkles	OMIM:614941
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
Rapp-Hodgkin Syndrome	Anhidrotic ectodermal dysplasia, Palmoplantar keratoderma, Dry skin	OMIM:129400
Noonan Syndrome 14	Dry skin, Bruising susceptibility, Polyhydramnios	OMIM:619745
Pigmented Nodular Adrenocortical Disease, Primary, 1	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating...	OMIM:610489
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Palpebral edema, Macroglossia, Everted lower lip vermilion, Abnormal ...	ORPHA:261144
Mass Syndrome	Striae distensae	OMIM:604308
Cutis Laxa, Autosomal Recessive, Type Iia	Excessive wrinkled skin, Intrauterine growth retardation, Redundant skin, Cutis laxa	OMIM:219200
Scholte Syndrome	Everted lower lip vermilion	OMIM:300977
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Compulsive...	ORPHA:534
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Violent behavior, Cleft lip, Thick lower lip vermilion, Palmoplantar h...	OMIM:280000
Septo-Optic Dysplasia Spectrum	Polydipsia, Dry skin	ORPHA:3157
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Premature graying of hair, Acanthosis nigricans, Intrauterin...	ORPHA:769
Koolen-De Vries Syndrome	Hyperactivity, Eczema, Impulsivity, Intrauterine growth retardation, Dry skin	OMIM:610443
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion...	OMIM:617877
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Hyperkeratosis, Thick vermilio...	ORPHA:79280
Chikungunya	Maculopapular exanthema, Skin rash, Facial edema, Pruritus, Erythema nodosum, Erythema, Crusting ...	ORPHA:324625
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Eczema, Aggressive behavior, Inability to walk, Bruxism, Dry skin	OMIM:617799
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin	OMIM:618797
Late-Onset Isolated Acth Deficiency	Lethargy, Decreased circulating cortisol level, Dry skin, Anorexia	ORPHA:199299
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Axenfeld-Rieger Syndrome	Microdontia, Everted lower lip vermilion, Redundant skin, Hypodontia	ORPHA:782
Noonan Syndrome 10	Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, High palate, Palmoplantar cu...	OMIM:616564
Tooth Agenesis, Selective, 4	Dry skin, Palmar hyperkeratosis	OMIM:150400
Gcgr-Related Hyperglucagonemia	Necrolytic migratory erythema	ORPHA:438274
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei...	ORPHA:357074
Fucosidosis	Angiokeratoma, Dry skin, Bruising susceptibility, Spastic gait, Petechiae	OMIM:230000
Focal Facial Dermal Dysplasia Type Iii	Prematurely aged appearance, Redundant skin	ORPHA:1807
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Self-injurious behavior, Recurrent hand flapping, Everted lower lip ver...	OMIM:617101
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard pala...	OMIM:115150
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Intrauterine growth retardation, Dry skin, Attention deficit hyperactivity disorder	ORPHA:2637
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Autosomal Dominant Cutis Laxa	Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Intrauterine growth...	ORPHA:90348
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Downturned corners of mouth, Hyperkeratosis, Short philtrum, Dysphagia	OMIM:615510
Ullrich Congenital Muscular Dystrophy 1	High palate, Mildly elevated creatine kinase, Follicular hyperkeratosis	OMIM:254090
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating...	ORPHA:1501
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Athet...	ORPHA:2962
Kleefstra Syndrome 1	Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive behavior, Macroglossia, ...	OMIM:610253
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Macroglossia, Open mouth, Everted lower lip vermilion	OMIM:616789
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,...	ORPHA:189427
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis	ORPHA:1005
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Facial edema, Erythema, Facial erythema	ORPHA:221016
Bone Marrow Failure Syndrome 3	Hyperactivity, Eczema, Oral ulcer, Downturned corners of mouth, Hyperkeratosis, Hypodontia, Micro...	OMIM:617052
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Dry skin, Hypohidrotic ectodermal dysplasia	OMIM:614940
Noonan Syndrome 2	Polyhydramnios, Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, High palate,...	OMIM:605275
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin	ORPHA:137608
Ogden Syndrome	Redundant neck skin, Pulmonary edema, Redundant skin, Facial wrinkling, Eczema, Lymphedema, Prema...	OMIM:300855
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Death in infancy, Dental crowding, Polyhydramnios, Gingival overgrowth,...	OMIM:615485
Adult Syndrome	Ectodermal dysplasia, Cutaneous photosensitivity, Dry skin, Eczema	OMIM:103285
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Premature skin wrinkling, Polyhydramnios	ORPHA:435628
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Prematurely age...	OMIM:264090
Prader-Willi Syndrome Due To Translocation	Thin upper lip vermilion, Carious teeth, Alveolar ridge overgrowth, Cleft palate, Microdontia of ...	ORPHA:177907
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Ataxia, Inability to walk, Progressive gait ataxia, Cutaneou...	ORPHA:191
Dubowitz Syndrome	Cutis marmorata, Eczema, Dry skin, Cutaneous photosensitivity, Attention deficit hyperactivity di...	ORPHA:235
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Eczema, Conical tooth, Taurodontia,...	OMIM:305100
Pachyonychia Congenita 2	Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Folliculit...	OMIM:167210
Helix Syndrome	Polydipsia, Dry skin, Xerostomia	OMIM:617671
Dermatomyositis	Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Acrocyanosi...	ORPHA:221
Wagr Syndrome	Everted lower lip vermilion	ORPHA:893
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Cutis marmorata, Progeroid facial appearance, Gait ataxia, Intrauterine growth ...	OMIM:300953
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Facial edema, Facial erythema, Telangiectasia, Attention d...	ORPHA:221008
Kikuchi-Fujimoto Disease	Skin rash, Palpebral edema, Ataxia, Anorexia, Pruritus, Pustule, Erythema, Cutaneous photosensiti...	ORPHA:50918
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Erythema, Telangiectasia, Gait disturbance, Scaling skin	ORPHA:420741
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Protruding tongue, Stereotypical hand wringing, Upper eyelid edema, Everted lower lip vermilion, ...	OMIM:617804
Autosomal Recessive Cutis Laxa Type 1	Redundant skin, Cutis laxa, Lack of skin elasticity	ORPHA:90349
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Warburg-Cinotti Syndrome	Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis	OMIM:618175
Heart And Brain Malformation Syndrome	Polyhydramnios, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted lower lip verm...	OMIM:616920
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperactivity, Eczema, Polyhydramnios, Hyperkeratosis, Hyperextensible skin, High palate, Attenti...	OMIM:607721
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Cutis laxa	ORPHA:91135
Opitz-Kaveggia Syndrome	Umbilical hernia, Attention deficit hyperactivity disorder, Facial wrinkling	OMIM:305450
Microcephaly-Deafness-Intellectual Disability Syndrome	Everted lower lip vermilion, Abnormal palate morphology	ORPHA:2533
Localized Scleroderma	Thickened skin, Erythema	ORPHA:90289
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Thickened skin, Skin ulcer, Scaling skin, Chylothorax, Pleural effusion, Dry s...	ORPHA:2526
Branchio-Oculo-Facial Syndrome	Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, High palate, Everted lower...	ORPHA:1297
Hallermann-Streiff Syndrome	Hyperactivity, Spina bifida, Telangiectasia, Choreoathetosis, Dry skin	OMIM:234100
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Everted lower lip vermilion, High palate, Attentio...	OMIM:612513
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Ehlers-Danlos Syndrome, Classic-Like	Soft skin, Hyperextensible skin, Striae distensae	OMIM:606408
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Umb...	OMIM:618000
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance	OMIM:227260
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Recurrent skin ...	ORPHA:3455
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Ataxia, Prematurely aged appearance, Progeroid facial appear...	OMIM:133540
2P15P16.1 Microdeletion Syndrome	Polyhydramnios, Dysphagia, Everted lower lip vermilion, High palate, Attention deficit hyperactiv...	ORPHA:261349
Eec Syndrome	Hyperkeratosis, Dry skin, Xerostomia	ORPHA:1896
Kleefstra Syndrome	Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavi...	ORPHA:261494
Chanarin-Dorfman Syndrome	Everted lower lip vermilion, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Vipoma	Anorexia, Erythema, Dehydration, Intermittent jaundice, Increased circulating cortisol level, Asc...	ORPHA:97282
X-Linked Intellectual Disability, Shashi Type	Everted lower lip vermilion, Palpebral edema	ORPHA:85286
Bainbridge-Ropers Syndrome	Dental crowding, High, narrow palate, Everted lower lip vermilion, Open mouth, Recurrent hand fla...	ORPHA:352577
Bethlem Myopathy	Hyperkeratosis, Elevated circulating creatine kinase concentration	ORPHA:610
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ...	OMIM:225400
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Thickened skin, Narrow philtrum, Palmoplantar hyperkeratosis, Corneal ...	OMIM:601812
Familial Tumoral Calcinosis	Erythema, Skin rash	ORPHA:53715
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis	ORPHA:2583
Laron Syndrome	Hypercholesterolemia, Prematurely aged appearance	ORPHA:633
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Everted...	ORPHA:85321
Acquired Partial Lipodystrophy	Progeroid facial appearance	ORPHA:79087
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Aggressive behavior, Orofacial cleft, High palate,...	ORPHA:65286
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Ataxia, Progeroid facial appear...	OMIM:216400
Gapo Syndrome	Delayed eruption of teeth, Palpebral edema, Hyperextensible skin, Everted lower lip vermilion, Lo...	ORPHA:2067
Menkes Disease	Thickened skin, Spontaneous hematomas, Prolonged neonatal jaundice, Umbilical hernia, Dry skin, I...	ORPHA:565
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Dry skin, Salt craving, Anorexia	ORPHA:95409
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Tented upper lip vermilion, Short philtrum, Everted lower lip vermilion, Open mout...	OMIM:617281
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Deep philtrum, Thin vermilion border, Exaggerated cupid's bow	OMIM:615879
Fryns-Smeets-Thiry Syndrome	Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Everted lower lip vermilion, ...	ORPHA:2058
Malan Syndrome	Advanced eruption of teeth, Everted lower lip vermilion, Gingival overgrowth, Narrow mouth	OMIM:614753
Congenital Disorder Of Glycosylation, Type Iie	Excessive wrinkled skin, Intrauterine growth retardation, Jaundice, Death in infancy	OMIM:608779
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Intrauterine growth retardation, Progeroid facial appearance	OMIM:608154
Congenital Disorder Of Glycosylation, Type Iir	Ascites, Cutis laxa	OMIM:301045
Bloom Syndrome	Malar rash, Facial erythema, Intrauterine growth retardation, Cutaneous photosensitivity, Facial ...	OMIM:210900
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Everted lower lip vermilion, Upper eyelid edema	OMIM:616819
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Cutis marmorata	OMIM:301220
Scleromyxedema	Aged leonine appearance, Pruritus, Thickened skin, Dysphagia, Generalized abnormality of skin, Sc...	ORPHA:167635
Chronic Graft Versus Host Disease	Anorexia, Poor wound healing, Thickened skin, Erythema, Xerostomia, Skin ulcer, Pleural effusion,...	ORPHA:99921
Acrofrontofacionasal Dysostosis	Non-midline cleft lip, Everted lower lip vermilion, High palate, Cleft palate	ORPHA:1784
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l...	OMIM:616449
Cranioectodermal Dysplasia 3	Ectodermal dysplasia, Dry skin, Cutis laxa	OMIM:614099
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Dry skin, Progeroid facial appearance	OMIM:614008
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Polyhydramnios, Cutis laxa, Hyperextensible skin, Follicular hyperkeratosis, S...	OMIM:614557
Moebius Syndrome	Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Ev...	ORPHA:570
Glucagonoma	Skin rash, Anorexia, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Increased ci...	ORPHA:97280
Xp21 Deletion Syndrome	Hypertriglyceridemia, Everted lower lip vermilion, Elevated circulating creatine kinase concentra...	ORPHA:261476
Loeys-Dietz Syndrome 4	High, narrow palate, Hyperextensible skin, High palate, Broad uvula, Bifid uvula, Striae distensae	OMIM:614816
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Aggressive behavior, Thickened skin, Dental malocclusion, Epidermal thickening, Loca...	ORPHA:73223
Fabry Disease	Anorexia, Lymphedema, Hyperlipidemia, Thick lower lip vermilion, Hyperkeratosis, Abnormal circula...	ORPHA:324
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Aggressive behavior, Compulsive behaviors, Dry skin, Oligo...	ORPHA:163956
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Long philtrum, Eczema, Cutis laxa	OMIM:619691
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Progeroid facial appearance, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Difficulty ...	ORPHA:412057
Leprechaunism	Thickened skin, Hyperkeratosis, Hypokalemia, Hyperextensible skin, Thick vermilion border, Hypera...	ORPHA:508
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Intrauterine growth retardation, Erythema	OMIM:614653
Trisomy 20P	Smooth philtrum, Abnormality of the dentition, Downturned corners of mouth, Thin vermilion border...	ORPHA:261318
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance...	OMIM:615873
Ogden Syndrome	High, narrow palate, Everted upper lip vermilion, Cutis laxa	ORPHA:276432
Blau Syndrome	Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Ichthyosis, Dry skin	ORPHA:90340
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Fucosidosis	Generalized hyperkeratosis, Abnormality of the dentition	ORPHA:349
Trisomy 8Q	Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ...	ORPHA:1752
Focal Dermal Hypoplasia	Umbilical hernia, Erythema, Telangiectasia of the skin, Spina bifida	ORPHA:2092
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Ataxia, Progeroid facial appearance, Unsteady gait, Cutaneous telang...	OMIM:615919
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Everted lower lip vermilion, Dysphagia	OMIM:252930
Melas	Erythema, Gait disturbance, Ataxia	ORPHA:550
Sheehan Syndrome	Decreased circulating cortisol level, Dry skin, Pallor	ORPHA:91355
Werner Syndrome	Hypertriglyceridemia, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calc...	OMIM:277700
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Short philtrum	OMIM:619824
Intellectual Developmental Disorder, Autosomal Dominant 38	Tented upper lip vermilion, Aggressive behavior, Hair-pulling, Downturned corners of mouth, Self-...	OMIM:616393
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Broad-based gait, Fetal ascites, Impulsivity, Erythema, Atop...	OMIM:619503
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Tented upper lip vermilion, Abnormality of the dentition, Thick lower lip vermi...	ORPHA:847
Behcet Syndrome	Erythema nodosum, Erythema	OMIM:109650
Trisomy 12P	Downturned corners of mouth, Everted lower lip vermilion, Cleft palate	ORPHA:1699
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas	ORPHA:32960
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Death in childhood, Hyperkeratosis, Stillbirth, Prolonged neonatal jaundice, In...	OMIM:210710
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Gingival overgrowth, Glossoptosis, Short philtrum, High palate, De...	OMIM:602535
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Fetal Hydantoin Syndrome	Wide mouth, Everted lower lip vermilion, Cleft palate	ORPHA:1912
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescen...	OMIM:256040
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperalaninemia, Everted lower lip vermilion, Hyperammonemia, Dysphagia	OMIM:615471
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera...	ORPHA:79501
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Cl...	ORPHA:464738
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Dry skin, Eczema	ORPHA:508542
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Dry skin, Redundant skin	OMIM:200110
Atopic Keratoconjunctivitis	Dry skin	ORPHA:163934
Autosomal Dominant Hypocalcemia	Dry skin, Eczema	ORPHA:428
Hamamy Syndrome	Thin upper lip vermilion, Dental malocclusion, Wide mouth, Everted lower lip vermilion, High pala...	OMIM:611174
Short Syndrome	Excessive wrinkled skin	ORPHA:3163
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Everted lower lip vermilion, Long philtrum	ORPHA:75389
Scorpion Envenomation	Restlessness, Purpura, Ataxia, Edema, Erythema, Pulmonary edema	ORPHA:466677
Familial Mediterranean Fever	Skin rash, Erythema, Pedal edema, Ascites, Erysipelas	ORPHA:342
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
8P Inverted Duplication/Deletion Syndrome	Impulsivity, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip v...	ORPHA:96092
Johnson Neuroectodermal Syndrome	Carious teeth, Everted lower lip vermilion, Cleft palate	ORPHA:2316
Campomelia, Cumming Type	Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios	ORPHA:1318
Tangier Disease	Hypertriglyceridemia, Dry skin, Hypocholesterolemia	ORPHA:31150
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Aicardi-Goutières Syndrome	Cutis marmorata, Chilblains, Dry skin, Difficulty walking, Prolonged neonatal jaundice, Acrocyanosis	ORPHA:51
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Chronic mucocutaneous candidiasis, Follicular hyperkeratosis, Furrowed ...	OMIM:158310
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Progeroid facial appearance, Cutis laxa	ORPHA:75496
Axenfeld-Rieger Syndrome, Type 2	Microdontia, Everted lower lip vermilion, Short philtrum, Hypodontia	OMIM:601499
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Umbilical hernia, Dry skin, Redundant skin	ORPHA:920
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Abnormal dental enamel morphology, Anorexia	ORPHA:79430
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal dental morphology, Eczema, Hyperkeratosis, Everted lower lip vermilion, Inappropriate la...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal dental morphology, Eczema, Hyperkeratosis, Everted lower lip vermilion, Inappropriate la...	ORPHA:363958
Dermatosparaxis Ehlers-Danlos Syndrome	Excessive wrinkled skin, Abnormality of subcutaneous fat tissue	ORPHA:1901
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Aggressive behavior, Cleft lip, Cleft palate, Everted lower lip vermilion, Thick vermilion border...	OMIM:301066
Reactive Arthritis	Pustule, Hyperkeratosis, Recurrent aphthous stomatitis, Joint swelling	ORPHA:29207
Hajdu-Cheney Syndrome	Umbilical hernia, Dry skin, Skin ulcer, Thickened skin	ORPHA:955
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Dry skin, Lethargy	OMIM:218700
Schwartz-Jampel Syndrome	Pursed lips, Death in infancy, Elevated circulating creatine kinase concentration, Polyhydramnios...	ORPHA:800
Addison Disease	Decreased circulating cortisol level, Dry skin, Salt craving, Anorexia	ORPHA:85138
Scheie Syndrome	Wide mouth, Thick vermilion border, Everted lower lip vermilion	ORPHA:93474
Cranioectodermal Dysplasia 2	Polyhydramnios, Hydrops fetalis, Cleft palate, Cutis laxa, Broad philtrum, Fused teeth, High pala...	OMIM:613610
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Eczema, Erythema, Urticaria, Hyperkeratosis, Ichthyosis	ORPHA:2273
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Everted lower lip vermilion, High palate, Short philtrum, Oligohydramnios	OMIM:613776
Cockayne Syndrome Type 2	Ataxia, Progeroid facial appearance, Gait disturbance, Difficulty walking, Intrauterine growth re...	ORPHA:90322
Scalp-Ear-Nipple Syndrome	Thickened skin, Cutaneous photosensitivity, Dry skin, Palpebral edema	OMIM:181270
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Elevated circulating creatine kinase concentration...	OMIM:242840
Plague	Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Unsteady gait, Skin ulcer, Dry skin	ORPHA:707
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Scaling skin	OMIM:618419
Cushing Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Intra-oral hype...	ORPHA:96253
Ramon Syndrome	Delayed eruption of teeth, Hyperkeratosis, Gingival fibromatosis, Narrow palate	OMIM:266270
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Congenital Ichthyosiform Erythroderma	Pruritus, Palmoplantar keratoderma, Erythroderma, Ichthyosis	ORPHA:79394
De Sanctis-Cacchione Syndrome	Parakeratosis, Ataxia, Scissor gait, Telangiectasia, Choreoathetosis, Cutaneous photosensitivity	OMIM:278800
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue	ORPHA:96147
Alzahrani-Kuwahara Syndrome	Self-mutilation, Dry skin, Eczema, Tip-toe gait	OMIM:619268
Autosomal Recessive Faciodigitogenital Syndrome	Open bite, Deep philtrum, Wide mouth, Hyperextensible skin, High palate, Everted lower lip vermil...	ORPHA:1974
Fibromuscular Dysplasia, Multifocal	Soft skin, Dental crowding, Hyperextensible skin, High palate, Soft, doughy skin, Striae distensa...	OMIM:619329
Wrinkly Skin Syndrome	Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Palmoplant...	OMIM:278250
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Intrauterine growth retardation, Spina bifida occulta	ORPHA:500
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Impulsivity, Difficulty walking, Dysphagia, Dry skin, Self-mutilation...	ORPHA:642
Syndromic Diarrhea	Intrauterine growth retardation, Dry skin	ORPHA:84064
Chand Syndrome	Dry skin, Ataxia	ORPHA:1401
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial ...	ORPHA:2959
Primary Sjögren Syndrome	Cutis marmorata, Erythema nodosum, Xerostomia, Skin ulcer, Dry skin, Purpura	ORPHA:289390
2Q31.1 Microdeletion Syndrome	Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermilion border, Everted lower li...	ORPHA:251014
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Abnormality of the dentition, Everted lower lip vermilion, High palate,...	OMIM:608156
X-Linked Intellectual Disability, Snyder Type	Smooth philtrum, Dental crowding, Thick lower lip vermilion, Cleft palate, High palate, Short phi...	ORPHA:3063
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Dry skin	OMIM:263650
Geroderma Osteodysplastica	Prematurely aged appearance, Redundant skin	ORPHA:2078
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa	OMIM:614100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Deep philtrum, Short philtrum	OMIM:619951
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut...	OMIM:123700
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog...	OMIM:608612
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Erythema, Jaundice	ORPHA:913
Mucopolysaccharidosis Type 1	Thick lower lip vermilion, Gingival overgrowth, Everted lower lip vermilion, Widely spaced teeth,...	ORPHA:579
Restrictive Dermopathy 1	Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Hydropic placenta,...	OMIM:275210
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Everted...	ORPHA:293987
Exercise-Induced Malignant Hyperthermia	Lethargy, Dry skin, Ataxia, Flushing	ORPHA:466650
Orofaciodigital Syndrome Type 1	Dry skin, Ataxia	ORPHA:2750
Nelson Syndrome	Secondary hypercortisolism, Increased circulating cortisol level, Striae distensae	ORPHA:199244
Down Syndrome	Umbilical hernia, Gait disturbance, Prematurely aged appearance	ORPHA:870
Urachal Cyst	Erythema	ORPHA:488
Lymphatic Filariasis	Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema	ORPHA:2035
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
6Q Terminal Deletion Syndrome	Broad philtrum, Hyperkeratosis, Thick vermilion border, High, narrow palate	ORPHA:75857
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Erythema, Subcutaneous lipoma	ORPHA:276152
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Skin rash, Anorexia, Acantholysis, Oral mucosal blisters, O...	ORPHA:95455
Limb-Mammary Syndrome	Dry skin, Psoriasiform dermatitis	ORPHA:69085
Hurler Syndrome	Macroglossia, Everted lower lip vermilion, Thick vermilion border, Death in infancy	ORPHA:93473
Ectodermal Dysplasia And Immunodeficiency 2	Anhidrotic ectodermal dysplasia, Dry skin	OMIM:612132
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Polyhydramnios, Edema, Long upper lip, A...	OMIM:267000
Goldberg-Shprintzen Syndrome	Oligodontia, Everted lower lip vermilion, Short philtrum, Thick vermilion border	OMIM:609460
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Intrauterine growth retardation...	OMIM:616914
Kawasaki Disease	Palmoplantar erythema, Jaundice, Skin rash, Edema	ORPHA:2331
Sympathetic Ophthalmia	Erythema, Macular edema	ORPHA:79098
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl...	OMIM:129900
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Cutis laxa, Dea...	OMIM:613177
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Prematurely aged appearance, Progeroid facial appearance	ORPHA:90154
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl...	OMIM:604292
Leprosy	Hyperkeratosis, Steppage gait, Penetrating foot ulcers, Acral ulceration	ORPHA:548
Relapsing Polychondritis	Erythema, Purpura	ORPHA:728
Wrinkly Skin Syndrome	Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex...	ORPHA:2834
Arterial Tortuosity Syndrome	Progeroid facial appearance, Cutis laxa, Umbilical hernia, Bruising susceptibility, Telangiectase...	OMIM:208050
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Progeroid facial appearance	OMIM:617763
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Progeroid facial appearance, Premature...	ORPHA:280365
Noonan Syndrome 1	Dry skin, Chylothorax, Bruising susceptibility, Lymphedema	OMIM:163950
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermilion, Hypodontia, M...	OMIM:218330
Coffin-Lowry Syndrome	Thick lower lip vermilion, Dental malocclusion, Narrow palate, Cutis laxa, High palate, Widely sp...	OMIM:303600
Van Den Ende-Gupta Syndrome	Dental crowding, High, narrow palate, Cleft palate, High palate, Everted lower lip vermilion, Nar...	OMIM:600920
Aortic Aneurysm, Familial Thoracic 10	High palate, Dental crowding, Striae distensae	OMIM:617168
Williams Syndrome	Redundant skin, Elevated circulating creatine kinase concentration, Periorbital edema, Compulsive...	ORPHA:904
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Anorexia, Intra...	ORPHA:99889
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Thick lower lip vermilion, Cleft palate, W...	OMIM:614609
Loeys-Dietz Syndrome 6	High palate, Striae distensae	OMIM:619656
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cleft palate, Cutis laxa, Hyperextensible skin, Soft skin, Long upper lip, Dermal translucency	OMIM:615349
Saul-Wilson Syndrome	Intrauterine growth retardation, Prominent superficial veins, Progeroid facial appearance	OMIM:618150
Restrictive Dermopathy	Natal tooth, Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Scaling skin,...	ORPHA:1662
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Short philtrum, Cutis laxa	OMIM:617237
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Prematurely aged appearance, Redundant skin	ORPHA:3342
Kyphoscoliotic Ehlers-Danlos Syndrome	Soft, doughy skin, Hyperextensible skin, High palate, Follicular hyperkeratosis	ORPHA:536545
Microphthalmia With Linear Skin Defects Syndrome	Erythema	ORPHA:2556
Cerebrotendinous Xanthomatosis	Ataxia, Prematurely aged appearance, Aggressive behavior, Myelopathy, Gait disturbance, Agitation...	ORPHA:909
Baller-Gerold Syndrome	Erythema, Spina bifida occulta, Severe intrauterine growth retardation	OMIM:218600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Cockayne Syndrome Type 1	Ataxia, Progeroid facial appearance, Gait disturbance, Difficulty walking, Cutaneous photosensiti...	ORPHA:90321
Acquired Generalized Lipodystrophy	Acanthosis nigricans, Hypertriglyceridemia, Progeroid facial appearance	ORPHA:79086
Duane Retraction Syndrome	Everted lower lip vermilion, Cleft palate	ORPHA:233
Marfan Syndrome	Dental crowding, Open bite, High, narrow palate, Cleft palate, Attention deficit hyperactivity di...	ORPHA:558
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Hypoplastic philtrum, Gingival overgrowth, High palate, Compulsive b...	OMIM:618918
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Bruising susceptibility, Joint swelling, Blephar...	ORPHA:287
Cowden Syndrome	Furrowed tongue, Macroglossia, Palmoplantar keratoderma, High palate, Generalized hyperkeratosis	ORPHA:201
Seckel Syndrome	Intrauterine growth retardation, Prematurely aged appearance	ORPHA:808
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Fragile skin	OMIM:614748
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Ataxia, Progeroid facial appearance	OMIM:610651
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Thin upper lip vermilion, Polyhydramnios, Everted lower lip vermilion, Narrow mouth, Smooth philt...	ORPHA:459070
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Palmoplantar erythema, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Feingold Syndrome 1	Thick vermilion border, Everted lower lip vermilion, High palate, Polyhydramnios	OMIM:164280
Trichorhinophalangeal Syndrome, Type Ii	Redundant skin in infancy, Dry skin, Cutis laxa	OMIM:150230
Meester-Loeys Syndrome	High palate, Bifid uvula, Striae distensae, Gingival overgrowth	OMIM:300989
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Repetitive compulsive behavior, Absent cupid's bow, Abnormality of t...	ORPHA:513456
Biliary, Renal, Neurologic, And Skeletal Syndrome	Polyhydramnios, Edema, Conjugated hyperbilirubinemia, Increased circulating ferritin concentratio...	OMIM:619534
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Cleft palate, Polyhydramnios, Cutis laxa	OMIM:270420
Cutis Laxa, Autosomal Recessive, Type Ia	Oligohydramnios, Redundant skin, Cutis laxa	OMIM:219100
Chromosome Xp11.3 Deletion Syndrome	Progeroid facial appearance	OMIM:300578
Marfan Syndrome	High palate, Narrow palate, Dental crowding, Striae distensae	OMIM:154700
Immunodeficiency 47	Hypercholesterolemia, Death in infancy, Cutis laxa	OMIM:300972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Everted lower lip vermilion, Pallor, Elevated circulating creatine kinase concentration	OMIM:253280
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup...	ORPHA:1519
Mandibuloacral Dysplasia Progeroid Syndrome	Progeroid facial appearance, Hypertriglyceridemia, Palmoplantar hyperkeratosis, Death in childhood	OMIM:619127
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Waddling gait, Intrauterine growth retardation, Dry skin	ORPHA:99646
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Deep philtrum, Everted lower lip vermilion, High palate	OMIM:613884
Lenz-Majewski Hyperostotic Dwarfism	Prematurely aged appearance, Redundant skin	ORPHA:2658
Loeys-Dietz Syndrome 2	Cleft palate, Soft skin, Bifid uvula, Striae distensae, Dermal translucency	OMIM:610168
Loeys-Dietz Syndrome	Orofacial cleft, High palate, Bifid uvula, Striae distensae	ORPHA:60030
Menke-Hennekam Syndrome 1	Thin upper lip vermilion, Everted upper lip vermilion, Deep philtrum, Cleft palate, Agenesis of p...	OMIM:618332
Aneurysm-Osteoarthritis Syndrome	Dental malocclusion, Cleft palate, High palate, Bifid uvula, Striae distensae	ORPHA:284984
Mowat-Wilson Syndrome	Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cleft hard palate, Thick ...	ORPHA:2152
Vascular Ehlers-Danlos Syndrome	Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Excessive wrinkled skin,...	ORPHA:286
Carney Complex	Increased circulating cortisol level, Tongue nodules, Abnormal hard palate morphology, Striae dis...	ORPHA:1359
Loeys-Dietz Syndrome 3	Dental malocclusion, Cleft palate, High palate, Soft skin, Bifid uvula, Striae distensae, Dermal ...	OMIM:613795
Proteus Syndrome	Abnormal dental enamel morphology, Lymphedema, Carious teeth, Thickened skin, Tooth agenesis, Gen...	ORPHA:744
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Lack of facial subcutaneous fat, Polyhydramnios	OMIM:614098
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Edema of the dor...	OMIM:601803
Branchioskeletogenital Syndrome	Umbilical hernia, Blepharochalasis, Periorbital wrinkles	ORPHA:1299
Cutis Laxa, Autosomal Recessive, Type Ib	Dermal translucency, Cutis laxa, High palate, Soft skin, Oligohydramnios	OMIM:614437

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 Pnpla1

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 Pnpla1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.	Human molecular genetics (May 2017)	Pnpla1^{tm1a(KOMP)Wtsi}	28369476
PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.	Nature communications (March 2017)	Pnpla1^{tm1a(KOMP)Wtsi}	PMC5337976

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
Pnpla1^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pnpla1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pnpla1 MGI:3617850

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Pnpla1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data