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Gene: Tgm1 MGI:98730

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

transglutaminase 1, K polypeptide

Synonyms:

protein-glutamine-gamma-glutamyltransferase, TGase1, TG K, K polypeptide, 2310004J08Rik, TGase 1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tgm1 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 Tgm1 (6 diseases)
Human diseases predicted to be associated with Tgm1 (674 diseases)

The table below shows human diseases associated to Tgm1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
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
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:313
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Congenital Ichthyosiform Erythroderma	Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure to thrive	ORPHA:79394

The table below shows human diseases predicted to be associated to Tgm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
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
Ulerythema Ophryogenesis	Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C...	ORPHA:3406
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal...	ORPHA:737
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery...	ORPHA:64745
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Huriez Syndrome	Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma	ORPHA:384
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Chronic Hiccup	Weight loss, Dehydration, Abnormal eating behavior	ORPHA:396
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:313
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop...	ORPHA:530838
Mastocytosis, Cutaneous	Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Follicular hyperkeratosis, Pruritus	ORPHA:79100
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma	OMIM:617524
Vibratory Urticaria	Urticaria, Flushing, Facial erythema	OMIM:125630
Classic Mycosis Fungoides	Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin	ORPHA:2584
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Dermatoleukodystrophy	Thickened skin, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Cutaneous photosensitivity, Erythema	ORPHA:33314
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Fragile skin	OMIM:615028
Peeling Skin Syndrome 3	Pruritus, Erythema, White scaling skin	OMIM:616265
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Death in infancy, Erythema	OMIM:219095
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Dermatitis, Atopic	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos...	OMIM:603165
Sydenham Chorea	Unsteady gait, Erythema, Inappropriate behavior, Compulsive behaviors	ORPHA:306731
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Erythrokeratodermia Variabilis	Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Cutaneous p...	ORPHA:317
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Familial Cold Urticaria	Pruritus, Erythema, Dehydration, Urticaria, Polydipsia	ORPHA:47045
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe...	ORPHA:79455
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode...	ORPHA:312
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis	OMIM:248300
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis	ORPHA:455
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth...	OMIM:607602
Central Diabetes Insipidus	Anorexia, Dehydration, Weight loss, Lethargy, Polydipsia, Failure to thrive	ORPHA:178029
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Erythem...	ORPHA:100057
Erosive Pustular Dermatosis Of The Scalp	Pustule, Erythema	ORPHA:222
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Quinquaud Folliculitis Decalvans	Pustule, Erythema, Recurrent skin infections	ORPHA:346
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura	ORPHA:889
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i...	ORPHA:90159
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Cachexia, Thickened skin, Lack of skin elasticity, Weight lo...	ORPHA:1979
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:816
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Maculopapular Cutaneous Mastocytosis	Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu...	ORPHA:79457
Anonychia With Flexural Pigmentation	Hyperkeratosis, Macular telangiectasia, Follicular hyperkeratosis	ORPHA:69125
Reticular Dysgenesis	Skin rash, Skin ulcer, Weight loss, Dehydration, Failure to thrive	ORPHA:33355
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Transaldolase Deficiency	Premature skin wrinkling, Hydrops fetalis, Edema, Telangiectasia	ORPHA:101028
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,...	OMIM:605676
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Classic Phenylketonuria	Self-injurious behavior, Eczema, Lack of skin elasticity, Attention deficit hyperactivity disorder	ORPHA:79254
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis, Erythema	ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Alg8-Cdg	Failure to thrive, Ataxia, Abnormality of subcutaneous fat tissue, Edema, Small for gestational a...	ORPHA:79325
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e...	OMIM:614457
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering...	ORPHA:158681
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Dehydration	OMIM:601410
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:461
Antisynthetase Syndrome	Skin rash, Telangiectasia of the skin, Edema, Pruritus, Xerostomia, Lack of skin elasticity, Dysp...	ORPHA:81
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,...	ORPHA:90280
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Harlequin Ichthyosis	Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Self-injurious be...	ORPHA:457
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Erythema Of Acral Regions	Erythema	OMIM:227000
Keratolytic Winter Erythema	Erythema	OMIM:148370
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Pa...	ORPHA:79399
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Autosomal Erythropoietic Protoporphyria	Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:79278
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema	ORPHA:36237
Costello Syndrome	Failure to thrive in infancy, Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkerat...	ORPHA:3071
Dermatitis Herpetiformis	Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Leri Pleonosteosis	Thickened skin, Gait disturbance, Lack of skin elasticity	ORPHA:2900
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria	ORPHA:703
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Failure to thrive, Dehydration	ORPHA:28
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Thickened skin, Diffuse palmoplantar...	ORPHA:495
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema	OMIM:615907
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis	ORPHA:89838
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi...	ORPHA:166113
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling, Failure to thrive	OMIM:617950
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczema, Edema	OMIM:177000
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Cutaneou...	ORPHA:158673
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb...	ORPHA:79395
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Failure to thrive, Redundant skin, Lack of skin elasticity, Excessiv...	OMIM:612940
Netherton Syndrome	Skin rash, Eczema, Erythroderma, Dehydration, Urticaria, Congenital nonbullous ichthyosiform eryt...	ORPHA:634
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Dehydration, Choreoathetosis, Lethargy, Failure to thrive	ORPHA:79312
Werner Syndrome	Prematurely aged appearance, Telangiectasia of the skin, Miscarriage, Lack of skin elasticity, Sk...	ORPHA:902
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Familial Cold Autoinflammatory Syndrome 3	Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria	OMIM:614468
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Keratosis Pilaris Atrophicans	Erythema	OMIM:604093
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ...	OMIM:612281
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin	ORPHA:542592
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Dehydration, Dysphagia	OMIM:618958
Baralle-Macken Syndrome	Acanthosis nigricans, Inability to walk, Obesity, Striae distensae	OMIM:619255
Stiff Skin Syndrome	Thickened skin, Lack of skin elasticity	ORPHA:2833
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Failure to thrive, Polyhydramnios, Dehydration	OMIM:616069
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Mycosis Fungoides	Pruritus, Erythema, Eczema, Psoriasiform dermatitis	OMIM:254400
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Pseudoxanthoma Elasticum	Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle...	ORPHA:758
Myoclonic-Astatic Epilepsy	Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Premature skin wr...	ORPHA:1942
Ehlers-Danlos Syndrome, Classic Type, 2	Hyperextensible skin, Soft, doughy skin, Bruising susceptibility, Fragile skin, Soft skin	OMIM:130010
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Eczema, Dysphagia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:612379
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Death in infancy, Dry skin, Urticaria, Ichthyosis, Failure t...	ORPHA:1954
Snakebite Envenomation	Edema, Angioedema, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis	ORPHA:449285
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin	OMIM:308800
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Dehydration, Weight loss	OMIM:143880
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke...	OMIM:242100
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Ehlers-Danlos Syndrome, Hypermobility Type	Soft skin, Hyperextensible skin, Striae distensae	OMIM:130020
Transient Neonatal Diabetes Mellitus	Failure to thrive, Small for gestational age, Dehydration	ORPHA:99886
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Complex Regional Pain Syndrome	Edema of the upper limbs, Erythema, Dry skin, Pedal edema	ORPHA:83452
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Perioral erythema, Erythroderma, Failure to thrive	OMIM:614328
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess	OMIM:147060
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Aggressive behavior	OMIM:247100
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis	OMIM:607936
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Cog7-Cdg	Excessive wrinkled skin, Jaundice, Failure to thrive, Small for gestational age	ORPHA:79333
Beta-Ketothiolase Deficiency	Ataxia, Anorexia, Edema, Dehydration, Weight loss, Agitation, Pallor, Oral aversion	ORPHA:134
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Urticari...	OMIM:256500
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta...	ORPHA:90156
Ichthyosis Prematurity Syndrome	Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkerat...	OMIM:608649
Sunct Syndrome	Restlessness, Palpebral edema, Facial edema, Facial erythema, Agitation, Flushing	ORPHA:57145
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Failure to thrive, Ataxia, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin	OMIM:609180
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema	ORPHA:79099
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli...	OMIM:616295
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:289504
Prolidase Deficiency	Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Cutaneous photo...	ORPHA:742
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash	OMIM:620321
Xeroderma Pigmentosum, Complementation Group F	Cutaneous photosensitivity, Erythema, Ataxia, Decreased body weight	OMIM:278760
Psoriasis 14, Pustular	Pustule, Parakeratosis, Erythema, Psoriasiform dermatitis	OMIM:614204
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, Large for gestational a...	ORPHA:363705
Noonan Syndrome 8	Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Hyperextensible skin, Palmopla...	OMIM:615355
Acrogeria	Telangiectasia of the skin, Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer	ORPHA:2500
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Hyperextensible skin, Petechiae, Bruising susceptibility, Striae distensae	OMIM:225310
Pituitary Adenoma 4, Acth-Secreting	Edema, Poor wound healing, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, Bruising susc...	OMIM:219090
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer, Weight loss	ORPHA:767
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Telangiectasia of the skin, Lack of skin elasticity	OMIM:615381
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Dehydration, Death in adolescence, Death in childhood, Failure to thrive	OMIM:560000
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Hyperextensible skin, Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior	OMIM:618339
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Acrodermatitis Enteropathica	Failure to thrive, Anorexia, Pustule, Erythema, Skin ulcer, Weight loss, Dry skin, Generalized ab...	ORPHA:37
Immunoglobulin A Vasculitis	Skin rash, Edema, Anorexia, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising suscep...	ORPHA:761
Combined Oxidative Phosphorylation Deficiency 2	Redundant neck skin, Small for gestational age, Edema, Neonatal death, Lethargy	OMIM:610498
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Pruritus	ORPHA:254478
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Small for gestational age, Jaundice, Dehydration, Ichthyosis, Failure to thrive...	OMIM:208085
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Ataxia, Xerostomia, Dysmetria, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, D...	OMIM:618527
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Slender build, Failure to thrive, Small for gestational age, Progeroid facial appearance	ORPHA:50811
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
Ectodermal Dysplasia-Syndactyly Syndrome 2	Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich...	OMIM:613576
Cystinosis	Dehydration, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms	ORPHA:213
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk...	ORPHA:100976
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Inability to walk, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Stepp...	ORPHA:36386
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Self-injurious behavior, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Aicardi-Goutieres Syndrome 1	Chilblains, Inability to walk, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilati...	OMIM:225750
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Dehydration, Death in childhood	OMIM:214150
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss, Edema, Dehydration	ORPHA:103910
Nodular Non-Suppurative Panniculitis	Erythema, Edema, Weight loss	ORPHA:33577
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Anorexia, Erythema, Hydrops fetalis, Dehydration, Pallor, Death in chi...	OMIM:557000
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangiecta...	OMIM:615934
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis	ORPHA:1334
Moynahan Syndrome	Hyperkeratosis, Cachexia	ORPHA:2574
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Lethargy, Ataxia, Dehydration	ORPHA:27
Fixed Drug Eruption	Erythema, Generalized abnormality of skin, Crusting erythematous dermatitis	ORPHA:293812
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit...	OMIM:259100
Juvenile Dermatomyositis	Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Weight lo...	ORPHA:93672
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk...	ORPHA:218
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Unsteady gait, Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkerat...	ORPHA:2269
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Gaucher Disease, Perinatal Lethal	Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Akinesia, Dysphagia, Hyperkerat...	OMIM:608013
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Ectodermal dysplasia, Dry skin, Palmoplantar keratoderma	OMIM:224750
Carnitine Deficiency, Systemic Primary	Lethargy, Failure to thrive, Dehydration	OMIM:212140
Ramon Syndrome	Hyperkeratosis, Failure to thrive, Telangiectasia of the skin	ORPHA:3019
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
8Q22.1 Microdeletion Syndrome	Lack of skin elasticity	ORPHA:178303
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo...	OMIM:602540
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk...	OMIM:257980
Isovaleric Acidemia	Lethargy, Dehydration	OMIM:243500
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Palmoplantar keratoderma, Facial erythema	OMIM:612843
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema	OMIM:106100
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Gait ataxia, Abdominal obesity, Striae distensae	OMIM:300354
Ataxia-Telangiectasia	Prematurely aged appearance, Ataxia, Telangiectasia of the skin, Premature graying of hair, Gait ...	ORPHA:100
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin	ORPHA:90368
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i...	ORPHA:163525
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema	ORPHA:79279
Alternating Hemiplegia Of Childhood	Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Dehydration, Chore...	ORPHA:2131
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma	ORPHA:659
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring blistering, ...	ORPHA:79397
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Ataxia, Perianal erythema, Perioral erythema, Lethargy, Dry skin	OMIM:201100
Glutamine Deficiency, Congenital	Neonatal death, Erythema	OMIM:610015
Cog5-Cdg	Premature skin wrinkling, Truncal ataxia, Oligohydramnios	ORPHA:263487
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Edema, Anorexia, Jaundice, Dehydration, Weight loss, Pallor, Lethargy	ORPHA:20
Propionic Acidemia	Lethargy, Failure to thrive, Eczema, Dehydration	OMIM:606054
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Generalized abnormality of skin, A...	ORPHA:79145
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Dermal translucency	OMIM:616603
Geroderma Osteodysplasticum	Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ...	OMIM:231070
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Rheumatic Fever	Erythema, Gait disturbance, Pallor, Anorexia	ORPHA:3099
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule	ORPHA:48377
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Short Syndrome	Premature skin wrinkling, Small for gestational age, Prominent superficial veins	OMIM:269880
Lichen Planopilaris	Pruritus, Hyperkeratosis, Skin ulcer	ORPHA:525
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Inflammatory abnormality of the skin, Failure to thrive, Hyperkeratosis, Ichthy...	OMIM:610768
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Secondary Short Bowel Syndrome	Failure to thrive, Polyphagia, Dehydration, Weight loss	ORPHA:95427
Mandibuloacral Dysplasia With Type A Lipodystrophy	Prematurely aged appearance, Lack of skin elasticity, Progeroid facial appearance	ORPHA:90153
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Failure to thrive, Decreased adipose tissue around neck, Cut...	OMIM:606721
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema	ORPHA:284227
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Autosomal Agammaglobulinemia	Recurrent skin infections, Failure to thrive, Skin rash, Dehydration	ORPHA:33110
Fountain Syndrome	Facial edema, Erythema, Hyperextensible skin, Cutis marmorata	ORPHA:3219
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Abnormal elasticity of skin, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Flynn-Aird Syndrome	Hyperkeratosis, Ataxia	OMIM:136300
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Inability to walk, Dry skin, Follicular hyperkeratosis	OMIM:617066
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa	OMIM:608068
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Neu-Laxova Syndrome	Lack of skin elasticity, Polyhydramnios, Ichthyosis	ORPHA:2671
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma	ORPHA:139402
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pruritus, Thickened skin, Erythema, Urticaria, Skin vesicle, Failure ...	ORPHA:2135
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss	ORPHA:171876
Nicolaides-Baraitser Syndrome	Eczema, Aggressive behavior, Gait ataxia, Excessive wrinkled skin, Periorbital wrinkles, Attentio...	OMIM:601358
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Obesity, Gait imbalance, Attention deficit hyperactivit...	OMIM:619312
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Dehydration	OMIM:264350
Mednik Syndrome	Death in infancy, Erythema, Ichthyosis, Death in childhood, Neonatal death	OMIM:609313
Mitral Valve Prolapse 1	Striae distensae	OMIM:157700
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration	OMIM:615237
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Dehydration	OMIM:610600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy, Failure to thrive, Dehydration	OMIM:251000
Adult-Onset Still Disease	Pruritus, Joint swelling, Erythema, Skin rash	ORPHA:829
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Increased number of skin folds, Redundant skin, Cutis laxa	ORPHA:436274
Immunodeficiency 23	Ataxia, Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum co...	OMIM:615816
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Dysphagia	ORPHA:530
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Fg Syndrome Type 1	Broad-based gait, Facial wrinkling, Compulsive behaviors, Attention deficit hyperactivity disorde...	ORPHA:93932
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Eczema	ORPHA:3051
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Failure to thrive, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Failure to thrive, Hypertonic dehydration	OMIM:304800
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Failure to thrive	OMIM:143860
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Wolcott-Rallison Syndrome	Jaundice, Dehydration, Difficulty walking, Decreased body weight, Ascites	ORPHA:1667
Thanatophoric Dysplasia Type 1	Redundant skin, Polyhydramnios, Increased nuchal translucency, Excessive wrinkled skin, Acanthosi...	ORPHA:1860
Ehlers-Danlos Syndrome, Classic-Like	Poor wound healing, Hyperextensible skin, Soft skin, Bruising susceptibility, Striae distensae	OMIM:606408
Cholera	Palmoplantar cutis laxa, Lethargy, Miscarriage, Dehydration	ORPHA:173
Arthrogryposis Multiplex Congenita 5	Akinesia, Death in infancy, Premature skin wrinkling, Polyhydramnios	OMIM:618947
Acth-Independent Macronodular Adrenal Hyperplasia	Truncal obesity, Bruising susceptibility, Agitation, Striae distensae	OMIM:219080
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration	OMIM:177735
Pigmented Nodular Adrenocortical Disease, Primary, 2	Truncal obesity, Bruising susceptibility, Agitation, Striae distensae	OMIM:610475
Atypical Werner Syndrome	Prominent superficial veins, Failure to thrive, Prematurely aged appearance, Telangiectasia of th...	ORPHA:79474
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Progeroid facial appearance, Inability to walk, Excessive wrinkled skin, Athetosis, Hyper...	ORPHA:357058
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Stuve-Wiedemann Syndrome 1	Death in infancy, Premature skin wrinkling, Dysphagia, Oligohydramnios	OMIM:601559
Toxic Epidermal Necrolysis	Acantholysis, Erythema, Skin ulcer, Weight loss, Dysphagia, Polydipsia	ORPHA:537
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyper...	ORPHA:2907
Xeroderma Pigmentosum	Conjunctival telangiectasia, Failure to thrive, Ataxia, Telangiectasia of the skin, Thickened ski...	ORPHA:910
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Shigellosis	Failure to thrive in infancy, Anorexia, Dehydration, Urticaria, Purpura	ORPHA:810
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Dry skin, Prematurely aged appearance	ORPHA:2617
Renal Hypoplasia	Polydipsia, Small for gestational age, Dehydration	ORPHA:93101
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Dry skin, Hyperkeratosis, Peau d'orange, Failure to thrive	OMIM:614576
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Dehydration	ORPHA:556030
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Fai...	ORPHA:2963
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Osteootohepatoenteric Syndrome	Pruritus, Dehydration, Weight loss, Prolonged neonatal jaundice, Failure to thrive	OMIM:619377
Vipoma	Anorexia, Erythema, Dehydration, Intermittent jaundice, Weight loss, Ascites, Subcutaneous lipoma	ORPHA:97282
Leopard Syndrome 3	Hyperkeratosis, Dry skin, Epidermal hyperkeratosis	OMIM:613707
Maxillonasal Dysplasia	Striae distensae	ORPHA:1248
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema	OMIM:619016
Kikuchi-Fujimoto Disease	Skin rash, Palpebral edema, Ataxia, Anorexia, Pruritus, Pustule, Erythema, Weight loss, Cutaneous...	ORPHA:50918
Weill-Marchesani Syndrome 2	Thickened skin, Lack of skin elasticity, Striae distensae	OMIM:608328
Incontinentia Pigmenti	Skin rash, Telangiectasia of the skin, Erythema, Skin ulcer, Hyperkeratosis, Gait disturbance, At...	ORPHA:464
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Mass Syndrome	Striae distensae	OMIM:604308
Microscopic Polyangiitis	Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage	ORPHA:727
Spinocerebellar Ataxia 34	Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma	OMIM:133190
Methylmalonic Aciduria, Cblb Type	Lethargy, Failure to thrive, Dehydration	OMIM:251110
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis...	ORPHA:1340
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis	ORPHA:281090
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Familial Cervical Artery Dissection	Striae distensae	ORPHA:36382
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Excessive wrinkled skin, Failure to thrive, Ataxia	ORPHA:3322
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Premature skin wrinkling, Failure to thrive, Polyhydramnios	ORPHA:435628
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Ortho...	OMIM:308050
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Ascites, Cutis laxa	OMIM:301045
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Recurrent skin infections, Erythema, Palmoplantar keratoderma, Generalized abn...	ORPHA:79396
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epid...	OMIM:137940
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Dysphagia	OMIM:616029
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin	ORPHA:454831
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Dermal translucency, Prominent superficial veins, Death in i...	OMIM:612289
Stevens-Johnson Syndrome	Weight loss, Erythema, Dysphagia, Acantholysis	ORPHA:36426
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Skin rash, Ataxia, Cachexia, Urticaria, Cutaneous photosensitivity, ...	ORPHA:220295
Corneodermatoosseous Syndrome	Thickened skin, Erythema, Palmoplantar keratoderma	ORPHA:3194
Geleophysic Dysplasia 1	Thickened skin, Lack of skin elasticity	OMIM:231050
Trichothiodystrophy 1, Photosensitive	Death in infancy, Small for gestational age, Telangiectasia, Hyperkeratosis, Cutaneous photosensi...	OMIM:601675
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Chikungunya	Maculopapular exanthema, Skin rash, Facial edema, Pruritus, Erythema nodosum, Erythema, Crusting ...	ORPHA:324625
Cutis Laxa, Autosomal Recessive, Type Iia	Excessive wrinkled skin, Failure to thrive, Redundant skin, Cutis laxa	OMIM:219200
Pigmented Nodular Adrenocortical Disease, Primary, 1	Truncal obesity, Bruising susceptibility, Agitation, Striae distensae	OMIM:610489
Sialidosis Type 1	Hyperkeratosis, Ataxia, Gait disturbance, Vascular skin abnormality	ORPHA:812
Lig4 Syndrome	Cutaneous photosensitivity, Erythema, Telangiectasia of the skin	ORPHA:99812
Congenital Tufting Enteropathy	Failure to thrive, Dehydration, Weight loss	ORPHA:92050
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Cutis laxa	ORPHA:91135
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Dehydration	OMIM:615453
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Pyruvate Carboxylase Deficiency	Failure to thrive, Ataxia, Anorexia, Dehydration, Tip-toe gait, Compulsive behaviors, Abnormal te...	ORPHA:3008
Adrenal Hypoplasia, Congenital	Failure to thrive, Dehydration	OMIM:300200
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Slender build, Failure to thrive, Small for gestational age, Progeroid facial appearance	OMIM:608154
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Rafiq Syndrome	Ataxia, Aggressive behavior, Obesity, Cutis laxa, Truncal obesity	OMIM:614202
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Xfe Progeroid Syndrome	Failure to thrive, Prematurely aged appearance, Cachexia, Dry skin, Death in adolescence, Cutaneo...	OMIM:610965
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios, Anorexia, Polydipsia, Failure to thrive	ORPHA:223
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Hidrotic ectodermal dysplasia	ORPHA:1883
Dermatomyositis	Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Weight loss...	ORPHA:221
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Ma...	ORPHA:398124
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia, Cutaneo...	ORPHA:2908
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Ataxia, Progeroid facial appearance, Unsteady gait, Cutaneous telang...	OMIM:615919
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ...	OMIM:615508
Methylmalonic Aciduria, Cbla Type	Lethargy, Failure to thrive, Dehydration	OMIM:251100
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei...	ORPHA:357074
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
Autosomal Dominant Cutis Laxa	Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Increased number of...	ORPHA:90348
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
3-Methylglutaconic Aciduria, Type Viib	Choreoathetosis, Ataxia, Polyhydramnios, Dehydration	OMIM:616271
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Athetosis, Dermal translucency	OMIM:614438
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly	ORPHA:1010
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Erythema, Telangiectasia, Weight loss, Gait disturbance, Sca...	ORPHA:420741
Chronic Graft Versus Host Disease	Poor wound healing, Anorexia, Thickened skin, Erythema, Xerostomia, Skin ulcer, Weight loss, Pleu...	ORPHA:99921
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An...	ORPHA:79280
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Scleroderma, Premature skin wrinkling	ORPHA:363618
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu...	OMIM:609242
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Oligomeganephronia	Polydipsia, Small for gestational age, Dehydration	ORPHA:2260
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Facial edema, Telangiectasia, F...	ORPHA:221008
Focal Facial Dermal Dysplasia Type Iii	Prematurely aged appearance, Redundant skin	ORPHA:1807
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Polyhydramnios, Dehydration	OMIM:214700
Gcgr-Related Hyperglucagonemia	Necrolytic migratory erythema	ORPHA:438274
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Facial edema, Erythema, Facial ...	ORPHA:221016
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Telangiectasia, Hyperkeratosis, Palmoplantar keratoderma	OMIM:604173
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Lack of skin elasticity, Weight loss, Shuffling ga...	ORPHA:740
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Pruritus, Jaundice, Ichthyosis, Orthokeratosis, Dry skin	OMIM:607626
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Hypohidrotic Ectodermal Dysplasia	Eczema, Xerostomia, Dry skin, Hyperkeratosis, Failure to thrive	ORPHA:238468
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Perianal erythema, Eczema, R...	OMIM:308205
Scleromyxedema	Aged leonine appearance, Pruritus, Thickened skin, Dysphagia, Generalized abnormality of skin, Sc...	ORPHA:167635
Autosomal Recessive Cutis Laxa Type 1	Redundant skin, Cutis laxa, Lack of skin elasticity	ORPHA:90349
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor	OMIM:308300
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Athet...	ORPHA:2962
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Ataxia, Cachexia, Inability to walk, Progressive gait ataxia...	ORPHA:191
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Ogden Syndrome	Redundant neck skin, Pulmonary edema, Redundant skin, Facial wrinkling, Eczema, Lymphedema, Prema...	OMIM:300855
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance	OMIM:227260
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive	OMIM:615279
Palmoplantar Carcinoma, Multiple Self-Healing	Ectodermal dysplasia, Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin	ORPHA:137608
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Acne, Dorsocervical fat pad, Increased body weight, Abdominal obesity, Bruising suscept...	ORPHA:189427
Glucagonoma	Skin rash, Anorexia, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Weight loss,...	ORPHA:97280
Cushing Disease	Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Increased body weight, Pedal edema, Sk...	ORPHA:96253
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Jaundice, Hydrops fetalis, Dehydration, Lethargy, Failure to thrive	ORPHA:79282
Campomelia, Cumming Type	Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios	ORPHA:1318
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Hyp...	OMIM:618000
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Acquired Partial Lipodystrophy	Progeroid facial appearance	ORPHA:79087
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Excessive wrinkled skin, Hyperextensible skin, Follicular hyperkeratosis, Pal...	OMIM:225400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Progeroid facial appearance, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Difficulty ...	ORPHA:412057
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Cutis marmorata, Failure to thrive in infancy	OMIM:301220
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Failure to thrive, Prematurely aged a...	OMIM:264090
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Skin rash, Failure to thrive in infancy, Pustule, Hyperkeratosis, Joint swelling	OMIM:612852
Laron Syndrome	Truncal obesity, Prematurely aged appearance	ORPHA:633
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance	ORPHA:1387
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Pruritus, Jaundice, Dehydration, Weight loss, Ascites	ORPHA:275761
Infantile Nephropathic Cystinosis	Polydipsia, Failure to thrive, Dehydration	ORPHA:411629
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu...	ORPHA:158668
Pearson Syndrome	Ataxia, Small for gestational age, Hydrops fetalis, Dehydration, Corneal stromal edema, Dysphagia...	ORPHA:699
Localized Scleroderma	Thickened skin, Erythema	ORPHA:90289
Man1B1-Cdg	Truncal obesity, Broad-based gait, Polyphagia, Cutis laxa	ORPHA:397941
Marburg Hemorrhagic Fever	Skin rash, Maculopapular exanthema, Anorexia, Aggressive behavior, Jaundice, Dehydration, Letharg...	ORPHA:99826
Short Syndrome	Excessive wrinkled skin, Weight loss	ORPHA:3163
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperactivity, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Hyperextensible...	OMIM:607721
Familial Tumoral Calcinosis	Erythema, Skin rash	ORPHA:53715
Opitz-Kaveggia Syndrome	Attention deficit hyperactivity disorder, Facial wrinkling	OMIM:305450
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Cutis marmorata, Progeroid facial appearance, Gait ataxia, Cutaneous photosensi...	OMIM:300953
Chime Syndrome	Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis	ORPHA:3474
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata, Dehydration	OMIM:259900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Broad-based gait, Failure to thrive, Fetal ascites, Impulsiv...	OMIM:619503
Warburg-Cinotti Syndrome	Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis	OMIM:618175
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat...	OMIM:601812
Melas	Failure to thrive, Erythema, Gait disturbance, Ataxia	ORPHA:550
Fucosidosis	Failure to thrive, Acrocyanosis, Generalized hyperkeratosis, Vascular skin abnormality	ORPHA:349
Scorpion Envenomation	Restlessness, Purpura, Ataxia, Edema, Erythema, Pulmonary edema	ORPHA:466677
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Dehydration	ORPHA:90791
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent skin infections, Ataxia, In...	ORPHA:3455
Bloom Syndrome	Small for gestational age, Malar rash, Facial erythema, Cutaneous photosensitivity, Facial telang...	OMIM:210900
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Skin ulcer, Dehydration, Joint swelling, Self-injurious behavior, Attention def...	ORPHA:534
Congenital Disorder Of Glycosylation, Type Iie	Excessive wrinkled skin, Jaundice, Failure to thrive, Death in infancy	OMIM:608779
Macs Syndrome	Decreased body weight, Palpebral edema, Redundant skin, Cutis laxa, Hyperextensible skin, Ichthyo...	OMIM:613075
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas	ORPHA:32960
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Amyloidosis, Finnish Type	Cutis laxa	OMIM:105120
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut...	OMIM:123700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Polyhydramnios, Cutis laxa, Hyperextensible skin, Follicular hyperkeratosis, Soft ...	OMIM:614557
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hyperextensible skin, Progeroid facial appearance, Cutis laxa	ORPHA:75496
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Behcet Syndrome	Erythema nodosum, Erythema	OMIM:109650
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer	ORPHA:1806
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Familial Mediterranean Fever	Skin rash, Erythema, Pedal edema, Ascites, Erysipelas	ORPHA:342
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ataxia, Dehydration, Weight loss	ORPHA:99885
Pachyonychia Congenita	Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h...	ORPHA:2309
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Dermatosparaxis Ehlers-Danlos Syndrome	Excessive wrinkled skin, Hyperextensible skin, Abnormality of subcutaneous fat tissue	ORPHA:1901
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Blau Syndrome	Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Ichthyosis, Dry skin	ORPHA:90340
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Dehydration	ORPHA:18
Agel Amyloidosis	Ataxia, Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin, Dermatological manif...	ORPHA:85448
Noonan Syndrome 10	Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, Palmoplantar cutis laxa, Ple...	OMIM:616564
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Ataxia, Prematurely aged appearance, Impulsivity, Excessive ...	OMIM:619950
Dend Syndrome	Dehydration	ORPHA:79134
Loeys-Dietz Syndrome 4	Hyperextensible skin, Bruising susceptibility, Striae distensae	OMIM:614816
Proteasome-Associated Autoinflammatory Syndrome 1	Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescence, Premature graying ...	OMIM:256040
Noonan Syndrome 2	Polyhydramnios, Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, Palmoplantar...	OMIM:605275
Juvenile Nephropathic Cystinosis	Polydipsia, Failure to thrive, Dehydration	ORPHA:411634
Neuroleptic Malignant Syndrome	Agitation, Dehydration, Dysphagia	ORPHA:94093
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Anorexia, Increased body weight, Pedal...	ORPHA:99889
Adrenocortical Carcinoma	Increased body weight, Striae distensae, Weight loss	ORPHA:1501
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Hermansky-Pudlak Syndrome	Anorexia, Thickened skin, Weight loss, Hyperkeratosis, Bruising susceptibility	ORPHA:79430
Cutis Laxa, Autosomal Recessive, Type Iiia	Prominent superficial blood vessels, Cutis laxa, Athetosis, Hyperextensible skin, Failure to thrive	OMIM:219150
Mycetoma	Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis	ORPHA:2583
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa	OMIM:614100
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Small for gestational age, Prematurely aged appearance, Lack of facial subcutan...	ORPHA:2959
Werner Syndrome	Scleroderma, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification	OMIM:277700
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Ataxia	ORPHA:28378
Geroderma Osteodysplastica	Hyperextensible skin, Prematurely aged appearance, Redundant skin	ORPHA:2078
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Severe failure to thrive	OMIM:246200
Microsporidiosis	Cachexia, Weight loss, Dehydration, Anorexia	ORPHA:2552
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Cystinosis, Nephropathic	Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dehydration, Weight loss, Dysphagia, Pol...	OMIM:219800
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Edema, Dehydration, Pyoderma, Failure to thrive, Fragile skin	ORPHA:79404
Focal Dermal Hypoplasia	Erythema, Telangiectasia of the skin	ORPHA:2092
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Dry skin, Redundant skin	OMIM:200110
Bartter Syndrome, Type 2, Antenatal	Small for gestational age, Polyhydramnios, Dehydration, Polydipsia, Failure to thrive	OMIM:241200
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Recon Progeroid Syndrome	Progeroid facial appearance, Livedo reticularis, Dry skin, Scaling skin, Cutaneous photosensitivity	OMIM:620370
Bethlem Myopathy	Waddling gait, Hyperkeratosis, Gait disturbance, Difficulty walking	ORPHA:610
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Tongue thrusting, Atopic dermatitis, Hyperkeratosis, Ichthyosis, Failure to thrive	OMIM:115150
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Ectodermal dysplasia, Dry skin	OMIM:601701
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Bartter Syndrome Type 4	Small for gestational age, Polyhydramnios, Dehydration, Severe failure to thrive, Failure to thrive	ORPHA:89938
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Eczema, Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Failure to thrive	ORPHA:2273
Ramon Syndrome	Hyperkeratosis, Decreased body weight, Angiokeratoma, Telangiectasia	OMIM:266270
Ullrich Congenital Muscular Dystrophy 1	Failure to thrive, Slender build, Follicular hyperkeratosis	OMIM:254090
Gapo Syndrome	Hyperextensible skin, Palpebral edema, Prematurely aged appearance	ORPHA:2067
Proximal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Dehydration	ORPHA:47159
Congenital Ichthyosiform Erythroderma	Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure to thrive	ORPHA:79394
Arterial Tortuosity Syndrome	Soft, doughy skin, Progeroid facial appearance, Cutis laxa, Hyperextensible skin, Soft skin, Brui...	OMIM:208050
Wrinkly Skin Syndrome	Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Palmoplant...	OMIM:278250
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Ataxia, Dysphagia	OMIM:615510
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Hyperactivity, Failure to thrive, Eczema	OMIM:617052
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Anorexia, Lymphedema, Hyp...	ORPHA:324
Fibromuscular Dysplasia, Multifocal	Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency	OMIM:619329
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Bruising susceptibility, Joint swelling, Blephar...	ORPHA:287
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:168558
Down Syndrome	Gait disturbance, Obesity, Prematurely aged appearance	ORPHA:870
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:289548
Colchicine Poisoning	Dehydration	ORPHA:31824
Trichothiodystrophy	Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Gait ataxia, Cutaneous ...	ORPHA:33364
Cockayne Syndrome Type 2	Progeroid facial appearance, Difficulty walking, Ataxia, Gait disturbance	ORPHA:90322
Zollinger-Ellison Syndrome	Jaundice, Erythema, Weight loss	ORPHA:913
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Multiple Endocrine Neoplasia Type 1	Lethargy, Weight loss, Dehydration, Anorexia	ORPHA:652
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Failure to thrive, Ataxia, Prematurely aged appearance, Prog...	OMIM:133540
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
De Sanctis-Cacchione Syndrome	Parakeratosis, Ataxia, Scissor gait, Telangiectasia, Choreoathetosis, Cutaneous photosensitivity	OMIM:278800
Kawasaki Disease	Palmoplantar erythema, Jaundice, Skin rash, Edema	ORPHA:2331
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Ectodermal dysplasia, Dry skin, Xerostomia, Periorbital wrinkles	OMIM:614941
Sympathetic Ophthalmia	Erythema, Macular edema	ORPHA:79098
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Hyperextensible skin	ORPHA:500
Bartter Syndrome, Type 1, Antenatal	Failure to thrive, Small for gestational age, Polyhydramnios, Dehydration	OMIM:601678
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Urachal Cyst	Erythema	ORPHA:488
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis	OMIM:148210
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Cutis laxa, Dea...	OMIM:613177
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Cutis laxa	OMIM:610842
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Miscarriage, Acne, Dehydration, Weight loss, Failure to thrive	ORPHA:90794
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:224900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cutis laxa, Hyperextensible skin, Decreased body weight, Soft skin, Dermal translucency	OMIM:615349
Leprechaunism	Reduced subcutaneous adipose tissue, Thickened skin, Hyperkeratosis, Hyperextensible skin, Decrea...	ORPHA:508
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance, Oligoh...	OMIM:616914
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog...	OMIM:608612
Reactive Arthritis	Pustule, Hyperkeratosis, Joint swelling, Weight loss	ORPHA:29207
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Progeroid facial appearance	OMIM:617763
Cockayne Syndrome Type 1	Failure to thrive, Ataxia, Progeroid facial appearance, Gait disturbance, Difficulty walking, Cut...	ORPHA:90321
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Wrinkly Skin Syndrome	Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex...	ORPHA:2834
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Oligohydramnios	ORPHA:96191
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Failure to thrive, Prematurely aged appearance, Ataxia, Prog...	OMIM:216400
Cutis Laxa, Autosomal Recessive, Type Ia	Oligohydramnios, Redundant skin, Cutis laxa	OMIM:219100
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Hyperextensible skin, Prematurely aged appearance, Redundant skin	ORPHA:3342
Cystic Fibrosis	Failure to thrive, Dehydration	OMIM:219700
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Relapsing Polychondritis	Erythema, Purpura	ORPHA:728
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Erythema	ORPHA:2556
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Eczema, Hyperkeratosis, Ectodermal dysplasia, Inappropriate laughter, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Eczema, Hyperkeratosis, Ectodermal dysplasia, Inappropriate laughter, ...	ORPHA:363958
Loeys-Dietz Syndrome 6	Striae distensae	OMIM:619656
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Polyhydramnios, Cutis laxa	OMIM:270420
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma	ORPHA:276152
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Hyperextensible skin, Difficulty walking, Follicular hyperkeratosis, Soft, do...	ORPHA:536545
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Dry skin, Redundant skin	ORPHA:920
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera...	ORPHA:79501
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Truncal obesity, Palmoplantar erythema, Failure to thrive, Abnormal repe...	OMIM:612474
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Premature graying of hair, Mini...	ORPHA:280365
Marfan Syndrome	Cachexia, Attention deficit hyperactivity disorder, Slender build, Striae distensae	ORPHA:558
Restrictive Dermopathy 1	Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Scalin...	OMIM:275210
Seckel Syndrome	Prematurely aged appearance, Cachexia	ORPHA:808
Eec Syndrome	Hyperkeratosis, Dry skin, Xerostomia	ORPHA:1896
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Ataxia, Progeroid facial appearance	OMIM:610651
Cerebrotendinous Xanthomatosis	Prematurely aged appearance, Ataxia, Aggressive behavior, Gait disturbance, Agitation, Attention ...	ORPHA:909
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prematurely aged appearance, Progeroid facial appearance	ORPHA:90154
Aortic Aneurysm, Familial Thoracic 10	Striae distensae	OMIM:617168
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Prominent superficial veins, Dry skin, Progeroid facial appearance	OMIM:614008
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Failure to thrive, Death in childhood, Hyperkeratosis, Stillbirth, Prolonged ne...	OMIM:210710
Meester-Loeys Syndrome	Poor wound healing, Bruising susceptibility, Striae distensae	OMIM:300989
Saul-Wilson Syndrome	Prominent superficial veins, Progeroid facial appearance	OMIM:618150
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Lymphatic Filariasis	Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema	ORPHA:2035
Leprosy	Hyperkeratosis, Steppage gait, Penetrating foot ulcers, Acral ulceration	ORPHA:548
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Failure to thrive, Lack of facial subcutaneous fat, Polyhydramnios	OMIM:614098
6Q Terminal Deletion Syndrome	Obesity, Dysmetria, Gait ataxia, Hyperkeratosis, Failure to thrive	ORPHA:75857
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Eczema, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Soft skin, Dry skin	OMIM:305100
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Fragile skin	OMIM:614748
Chromosome Xp11.3 Deletion Syndrome	Progeroid facial appearance	OMIM:300578
Acquired Generalized Lipodystrophy	Acanthosis nigricans, Progeroid facial appearance	ORPHA:79086
Baller-Gerold Syndrome	Erythema	OMIM:218600
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Aggressive behavior, Thickened skin, Epidermal thickening, Orthokeratotic hyperkerat...	ORPHA:73223
Cowden Syndrome	Ataxia, Palmoplantar keratoderma, Failure to thrive, Generalized hyperkeratosis, Mucosal telangie...	ORPHA:201
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Telangiectasia of the skin, Seborrheic dermatitis	ORPHA:276280
Nelson Syndrome	Striae distensae	ORPHA:199244
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Follicular hyperkeratosis	OMIM:158310
Williams Syndrome	Death in early adulthood, Ataxia, Redundant skin, Prematurely aged appearance, Failure to thrive ...	ORPHA:904
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Marfan Syndrome	Reduced subcutaneous adipose tissue, Striae distensae	OMIM:154700
Restrictive Dermopathy	Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl...	ORPHA:1662
Lenz-Majewski Hyperostotic Dwarfism	Prematurely aged appearance, Redundant skin	ORPHA:2658
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Ectodermal dysplasia, Xerostomia	OMIM:604292
Loeys-Dietz Syndrome	Bruising susceptibility, Striae distensae	ORPHA:60030
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Ectodermal dysplasia, Xerostomia	OMIM:129900
Loeys-Dietz Syndrome 2	Soft skin, Striae distensae, Dermal translucency	OMIM:610168
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Carney Complex	Dorsocervical fat pad, Increased body weight, Abdominal obesity, Bruising susceptibility, Striae ...	ORPHA:1359
Cutis Laxa, Autosomal Recessive, Type Ib	Soft skin, Oligohydramnios, Cutis laxa, Dermal translucency	OMIM:614437
Mandibuloacral Dysplasia Progeroid Syndrome	Progeroid facial appearance, Palmoplantar hyperkeratosis, Death in childhood	OMIM:619127
Aneurysm-Osteoarthritis Syndrome	Bruising susceptibility, Striae distensae	ORPHA:284984
Loeys-Dietz Syndrome 3	Soft skin, Bruising susceptibility, Striae distensae, Dermal translucency	OMIM:613795
Vascular Ehlers-Danlos Syndrome	Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Excessive wrinkled skin,...	ORPHA:286
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Proteus Syndrome	Generalized hyperkeratosis, Cachexia, Lymphedema, Thickened skin, Abnormal subcutaneous fat tissu...	ORPHA:744
Branchioskeletogenital Syndrome	Blepharochalasis, Periorbital wrinkles	ORPHA:1299

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 Tgm1

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 Tgm1.

No publications found that use IMPC mice or data for Tgm1.

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
Tgm1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tgm1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tgm1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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