Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (688 diseases)

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

Disease	Matching phenotypes	Source
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Edema of the dorsum of hands, ...	ORPHA:281127
Lamellar Ichthyosis	Ichthyosis, Hyperkeratosis, Dehydration, Dry skin, Lack of skin elasticity, Erythroderma, Pruritus	ORPHA:313
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Bathing Suit Ichthyosis	Scaling skin, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ichthyosiform eryt...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosi...	OMIM:242300
Congenital Ichthyosiform Erythroderma	Ichthyosis, Erythroderma, Failure to thrive, Palmoplantar keratoderma, Pruritus	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	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Edema of the dorsum of hands, ...	ORPHA:281127
Ulerythema Ophryogenesis	Facial erythema, Contact dermatitis, Miscarriage, Dry skin, Acne, Hyperkeratotic papule, Follicul...	ORPHA:3406
Ichthyosis, Congenital, Autosomal Recessive 14	Scaling skin, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht...	OMIM:617571
Porokeratosis Plantaris Palmaris Et Disseminata	Generalized abnormality of skin, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Porokeratosi...	ORPHA:737
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Palmar pruritus, Atopic dermatitis, Orth...	ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperker...	OMIM:617526
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis, Pruritus, Cutaneous photosensitivity	ORPHA:735
Acquired Ichthyosis	Ichthyosis, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratoderma, Recurrent skin infectio...	ORPHA:454
Diffuse Palmoplantar Keratoderma, Bothnian Type	Skin ulcer, Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:2337
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Facial erythema, Pruritus on foot, Palmar pruritus, Increased body weight, Eczemat...	ORPHA:64745
Mal De Meleda	Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepidermolytic palmoplanta...	ORPHA:87503
Huriez Syndrome	Palmoplantar keratoderma, Lack of skin elasticity, Dry skin, Sclerodactyly	ORPHA:384
Chronic Hiccup	Abnormal eating behavior, Weight loss, Dehydration	ORPHA:396
Progressive Symmetric Erythrokeratodermia	Palmoplantar keratoderma, Erythema	ORPHA:316
Vibratory Urticaria	Urticaria, Facial erythema, Flushing, Dermatographic urticaria	OMIM:125630
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de...	ORPHA:530838
Lamellar Ichthyosis	Ichthyosis, Hyperkeratosis, Dehydration, Dry skin, Lack of skin elasticity, Erythroderma, Pruritus	ORPHA:313
Ichthyosis With Erythrokeratoderma	Scaling skin, Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenital ichthyosiform erythr...	OMIM:620507
Mastocytosis, Cutaneous	Edema, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Erythema, Follicular hyperkeratosis	ORPHA:79100
Palmoplantar Keratoderma And Congenital Alopecia 2	Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Elastoderma	Cutis laxa, Erysipelas, Premature skin wrinkling, Eczematoid dermatitis	ORPHA:228240
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Erythema	OMIM:617524
Idiopathic Localized Lipodystrophy	Scaling skin, Morphea, Erythema, Reduced subcutaneous adipose tissue, Inflammatory abnormality of...	ORPHA:90158
Classic Mycosis Fungoides	Skin ulcer, Hyperkeratosis, Skin rash, Dry skin, Eczematoid dermatitis, Pruritus, Edema, Erythema	ORPHA:2584
Dermatoleukodystrophy	Thickened skin, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:33314
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,...	OMIM:613000
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus	OMIM:146750
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis	OMIM:617574
Cutaneous Collagenous Vasculopathy	Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Prominent superficial blood vessels...	ORPHA:280779
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Fragile skin	OMIM:615028
Peeling Skin Syndrome 3	White scaling skin, Pruritus, Erythema	OMIM:616265
Hydroa Vacciniforme	Hydroa vacciniforme, Cutaneous photosensitivity, Malar rash, Superficial dermal perivascular infl...	ORPHA:330058
Cutaneous Mastocytoma	Scaling skin, Erythema, Maculopapular exanthema, Peau d'orange, Angioedema, Thickened skin, Darie...	ORPHA:79455
Dermatitis, Atopic	Facial erythema, Ichthyosis, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Recurrent skin i...	OMIM:603165
Sydenham Chorea	Inappropriate behavior, Unsteady gait, Compulsive behaviors, Erythema	ORPHA:306731
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Death in infancy	OMIM:219095
Acral Peeling Skin Syndrome	Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Erythema	ORPHA:263534
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Erythrokeratodermia Variabilis	Cutaneous photosensitivity, Hyperkeratosis, Skin rash, Dry skin, Patchy palmoplantar hyperkeratos...	ORPHA:317
Ichthyosis, Annular Epidermolytic, 2	Scaling skin, Ichthyosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, ...	OMIM:620148
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections	OMIM:244850
Familial Cold Urticaria	Polydipsia, Erythema, Dehydration, Urticaria, Pruritus	ORPHA:47045
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Congenital bull...	ORPHA:312
Mal De Meleda	Perioral erythema, Congenital symmetrical palmoplantar keratosis, Ichthyosis	OMIM:248300
Superficial Epidermolytic Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Acantholysis, Edema, Erythema	ORPHA:455
Ichthyosis, Annular Epidermolytic, 1	Scaling skin, Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Palm...	OMIM:607602
Central Diabetes Insipidus	Polydipsia, Anorexia, Dehydration, Failure to thrive, Weight loss, Lethargy	ORPHA:178029
Ichthyosis, Congenital, Autosomal Recessive 8	Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema	OMIM:613943
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
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
Dermatofibrosarcoma Protuberans	Thickened skin, Skin ulcer, Erythema	ORPHA:31112
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Erythema	ORPHA:346
Cutaneous Small Vessel Vasculitis	Purpura, Skin rash, Urticaria, Cutis marmorata, Recurrent skin infections, Erythema	ORPHA:889
Panniculitis-Induced Localized Lipodystrophy	Vasculitis in the skin, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin...	ORPHA:90159
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Cachexia, Thickened skin, Reduced subcutaneous adipose tissue, Lack of...	ORPHA:1979
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Sjögren-Larsson Syndrome	Ichthyosis, Hyperkeratosis, Dry skin, Urticaria, Erythema	ORPHA:816
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Erythrokeratodermia Variabilis Et Progressiva 3	Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Erythema	OMIM:617525
Maculopapular Cutaneous Mastocytosis	Generalized abnormality of skin, Darier's sign, Pruritus, Flushing, Dermatographic urticaria, Ery...	ORPHA:79457
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Reticular Dysgenesis	Skin ulcer, Skin rash, Dehydration, Failure to thrive, Weight loss	ORPHA:33355
Transaldolase Deficiency	Edema, Hydrops fetalis, Premature skin wrinkling, Telangiectasia	ORPHA:101028
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle, Erythema migrans, Pruritus	ORPHA:158681
Anonychia With Flexural Pigmentation	Macular telangiectasia, Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Palpebral edema, Tongue edema, Angioedema, Pharyngeal edema, Facial edema, Laryngeal edema, Erythema	ORPHA:100057
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar scaling skin, Death in early adulthood, Death in adolescence, Fragile skin, Failure ...	OMIM:605676
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Ichthyosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Pruritus	OMIM:615821
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Scaling skin, Death in childhood, Ichthyosis, Hyperkeratosis, Dry skin, Congenital nonbullous ich...	OMIM:614457
Classic Phenylketonuria	Attention deficit hyperactivity disorder, Self-injurious behavior, Lack of skin elasticity, Eczem...	ORPHA:79254
Chilblain Lupus	Skin ulcer, Malar rash, Hyperkeratosis, Skin rash, Discoid lupus rash, Cutis marmorata, Inflammat...	ORPHA:90280
Vulvovaginal Gingival Syndrome	Parakeratosis, Pruritus, Erythema	ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Alg8-Cdg	Hydrops fetalis, Premature skin wrinkling, Ascites, Cutis laxa, Failure to thrive, Ataxia, Edema,...	ORPHA:79325
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:461
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Dehydration	OMIM:601410
Harlequin Ichthyosis	Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma, Sel...	ORPHA:457
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
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	Hyperkeratosis, Skin fragility with non-scarring blistering, Plantar hyperkeratosis, Palmar hyper...	ORPHA:79399
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Autosomal Erythropoietic Protoporphyria	Erythema, Cutaneous photosensitivity, Eczematoid dermatitis, Edema, Pruritus	ORPHA:79278
Antisynthetase Syndrome	Skin rash, Telangiectasia of the skin, Lack of skin elasticity, Dysphagia, Edema, Pruritus, Xeros...	ORPHA:81
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema	ORPHA:36237
Costello Syndrome	Polyhydramnios, Acanthosis nigricans, Hyperkeratosis, Redundant skin, Lack of skin elasticity, Fa...	ORPHA:3071
Leri Pleonosteosis	Thickened skin, Lack of skin elasticity, Gait disturbance	ORPHA:2900
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Premature skin wrinkling, Abdominal obesity	ORPHA:631
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis	ORPHA:79503
Ichthyosis Hystrix, Curth-Macklin Type	Palmoplantar keratoderma, Hyperkeratotic papule, Scaling skin, Fragile skin	OMIM:146590
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen...	OMIM:620150
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Ichthyosis, Congenital, Autosomal Recessive 10	Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n...	OMIM:615024
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Hailey-Hailey Disease	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration, Lethargy	ORPHA:28
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Acantholysis, Erythema	ORPHA:2841
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Lymphatic Malformation 4	Hyperkeratosis, Lymphedema, Prominent superficial veins, Pedal edema	OMIM:615907
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Scaling skin on fingertip, Congenital nonb...	ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 3	Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerato...	OMIM:606545
Transgrediens Et Progrediens Palmoplantar Keratoderma	Facial erythema, Diffuse palmoplantar hyperkeratosis, Recurrent bacterial skin infections, Nonepi...	ORPHA:495
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Protoporphyria, Erythropoietic, 1	Edema, Pruritus, Erythema, Eczematoid dermatitis	OMIM:177000
Netherton Syndrome	Ichthyosis, Acanthosis nigricans, Skin rash, Dehydration, Dry skin, Eczematoid dermatitis, Urtica...	ORPHA:634
Bazex Syndrome	Scaling skin, Parakeratosis, Acanthosis nigricans, Hyperkeratosis, Palmoplantar keratoderma, Edem...	ORPHA:166113
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Cutaneous photosensitivity, Fragile skin, Palmoplantar hyperkeratosis, Crusting erythematous derm...	ORPHA:158673
Familial Cold Autoinflammatory Syndrome 3	Erythema, Angioedema, Cold urticaria, Dermatographic urticaria, Pruritus	OMIM:614468
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Premature skin wrinkling	OMIM:617950
Bullous Pemphigoid	Erythema, Eczematoid dermatitis, Urticaria, Weight loss, Psoriasiform dermatitis, Pruritus	ORPHA:703
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Failure to thrive, Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis	ORPHA:89838
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Dehydration, Failure to thrive, Choreoathetosis, Lethargy	ORPHA:79312
Cutis Laxa, Autosomal Recessive, Type Iib	Excessive wrinkled skin, Redundant skin, Failure to thrive, Lack of skin elasticity, Bruising sus...	OMIM:612940
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration, Death in infancy	OMIM:251850
Werner Syndrome	Premature graying of hair, Skin ulcer, Prematurely aged appearance, Hyperkeratosis, Miscarriage, ...	ORPHA:902
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	Cutis laxa, Redundant skin, Erythema	ORPHA:33111
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Ichthyosis, Congenital, Autosomal Recessive 6	Scaling skin, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythroderma, Dry skin, Cong...	OMIM:612281
Stiff Skin Syndrome	Thickened skin, Lack of skin elasticity	ORPHA:2833
Ehlers-Danlos Syndrome, Hypermobility Type	Loss of ambulation, Soft skin, Hyperextensible skin, Striae distensae	OMIM:130020
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Keratosis Pilaris Atrophicans	Erythema	OMIM:604093
Pemphigus Foliaceus	Scaling skin, Pustule, Pruritus, Erythroderma, Skin vesicle, Acantholysis, Psoriasiform dermatiti...	ORPHA:79481
Dermatitis Herpetiformis	Eczematoid dermatitis, Urticaria, Pruritus, Edema, Skin vesicle, Erythema	ORPHA:1656
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Dehydration, Dysphagia	OMIM:618958
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Necrobiosis Lipoidica	Skin ulcer, Fragile skin, Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema	ORPHA:542592
Baralle-Macken Syndrome	Inability to walk, Obesity, Acanthosis nigricans, Striae distensae	OMIM:619255
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Pustule, Polyhydramnios, Dehydration	OMIM:616069
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar keratoderma, Epidermal hyperkeratosis, Palmoplantar erythema, Plantar hyperkeratosis	OMIM:104100
Congenital Lethal Erythroderma	Ichthyosis, Dry skin, Death in infancy, Urticaria, Failure to thrive, Congenital exfoliative eryt...	ORPHA:1954
Peeling Skin Syndrome 5	Scaling skin, Hyperkeratosis	OMIM:617115
Mycosis Fungoides	Psoriasiform dermatitis, Pruritus, Erythema, Eczematoid dermatitis	OMIM:254400
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, Hyperkeratotic papule, Crusting...	ORPHA:79147
Myoclonic-Astatic Epilepsy	Premature skin wrinkling, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity d...	ORPHA:1942
Peeling Skin Syndrome 6	Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus	OMIM:618084
Pseudoxanthoma Elasticum	Excessive wrinkled skin, Hyperextensible skin, Skin rash, Lack of skin elasticity, Telangiectasia...	ORPHA:758
Ehlers-Danlos Syndrome, Classic Type, 2	Hyperextensible skin, Fragile skin, Bruising susceptibility, Soft skin, Soft, doughy skin	OMIM:130010
Congenital Disorder Of Glycosylation, Type Iq	Ichthyosis, Hyperkeratosis, Dry skin, Eczematoid dermatitis, Cutis laxa, Failure to thrive, Dysph...	OMIM:612379
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Facial erythema, Folliculitis, Dry skin, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:308800
Trichothiodystrophy 7, Nonphotosensitive	Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Cutaneous photosensitivity, Follicu...	OMIM:618546
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Lethargy, Weight loss	OMIM:143880
Elastosis Perforans Serpiginosa	Cutis laxa, Hyperkeratotic papule, Crusting erythematous dermatitis	ORPHA:79148
Snakebite Envenomation	Neuromuscular dysphagia, Angioedema, Ecchymosis, Edema, Erythema, Pseudobulbar paralysis	ORPHA:449285
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Pruritus	OMIM:131850
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Transient Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Small for gestational age	ORPHA:99886
Pituitary Adenoma 4, Acth-Secreting	Purpura, Facial erythema, Abnormal fear-induced behavior, Obesity, Ecchymosis, Abdominal obesity,...	OMIM:219090
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Ichthyosis, Congenital, Autosomal Recessive 2	Congenital ichthyosiform erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:242100
Complex Regional Pain Syndrome	Edema of the upper limbs, Pedal edema, Dry skin, Erythema	ORPHA:83452
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus	ORPHA:409
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Aggressive behavior	OMIM:247100
Beta-Ketothiolase Deficiency	Anorexia, Agitation, Dehydration, Ataxia, Weight loss, Edema, Pallor, Oral aversion	ORPHA:134
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perioral erythema, Perianal erythema, Failure to thrive, Pustule, Erythroderma	OMIM:614328
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Netherton Syndrome	Parakeratosis, Eczematoid dermatitis, Angioedema, Urticaria, Failure to thrive, Congenital nonbul...	OMIM:256500
Peeling Skin Syndrome 4	Scaling skin, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:607936
Ichthyosis Prematurity Syndrome	Polyhydramnios, Generalized ichthyosis, Erythroderma, Dermatographic urticaria, Pruritus, Follicu...	OMIM:608649
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Scaling skin, Generalized hyperkeratosis, Generalized ichthyosis, Dry skin, Cutis laxa, Unsteady ...	ORPHA:2269
Cog7-Cdg	Failure to thrive, Jaundice, Excessive wrinkled skin, Small for gestational age	ORPHA:79333
Hypotrichosis Simplex Of The Scalp	Scaling skin, Parakeratosis, Hyperkeratosis, Atopic dermatitis, Pruritus	ORPHA:90368
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Pruritus	ORPHA:505
Sunct Syndrome	Agitation, Facial erythema, Palpebral edema, Restlessness, Facial edema, Flushing	ORPHA:57145
Centrifugal Lipodystrophy	Scaling skin, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, Inflammatory ...	ORPHA:90156
Aplasia Cutis Congenita	Skin ulcer, Erythema	ORPHA:1114
Congenital Disorder Of Glycosylation, Type If	Scaling skin, Hyperkeratosis, Dry skin, Death in infancy, Failure to thrive, Ataxia, Erythroderma	OMIM:609180
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Scaling skin, Hyperkeratosis, Dry skin, Fragile skin, Punctate palmoplantar hyperkeratosis, Acant...	OMIM:616295
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Lymphatic Malformation 12	Polyhydramnios, Hyperkeratosis, Lymphedema, Death in adolescence, Neonatal death, Nonimmune hydro...	OMIM:620014
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:289504
Prolidase Deficiency	Skin ulcer, Cutaneous photosensitivity, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratode...	ORPHA:742
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Erythema	ORPHA:79099
C1Q Deficiency 2	Facial erythema, Malar rash, Discoid lupus rash, Chilblains, Vasculitis in the skin	OMIM:620321
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Petechiae, Bruising susceptibility, Hyperextensible skin, Striae distensae	OMIM:225310
Psoriasis 14, Pustular	Psoriasiform dermatitis, Parakeratosis, Pustule, Erythema	OMIM:614204
Noonan Syndrome 8	Large for gestational age, Polyhydramnios, Hyperextensible skin, Hyperkeratosis, Pleural effusion...	OMIM:615355
Craniofaciofrontodigital Syndrome	Large for gestational age, Polyhydramnios, Premature skin wrinkling, Cutis laxa, Lower eyelid ede...	ORPHA:363705
Acrogeria	Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin, Telangiectasia of the skin	ORPHA:2500
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Dehydration, Death in adolescence, Failure to thrive, Ataxia	OMIM:560000
Xeroderma Pigmentosum, Complementation Group F	Decreased body weight, Ataxia, Erythema, Cutaneous photosensitivity	OMIM:278760
Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Hypergra...	ORPHA:2199
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Lack of skin elasticity, Telangiectasia of the skin	OMIM:615381
Acrodermatitis Enteropathica	Anorexia, Generalized abnormality of skin, Skin ulcer, Dry skin, Failure to thrive, Pustule, Weig...	ORPHA:37
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Hyperextensible skin, Follicular hyperkeratosis	ORPHA:300179
Immunoglobulin A Vasculitis	Anorexia, Purpura, Skin ulcer, Vascular skin abnormality, Skin rash, Angioedema, Urticaria, Pustu...	ORPHA:761
Polyarteritis Nodosa	Cutis marmorata, Weight loss, Erythema, Skin ulcer	ORPHA:767
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Self-injurious behavior, Agitation, Parakeratosis	OMIM:618339
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Erythroderma, White scaling skin, Congenital nonbullous ichthyosiform erythroderma...	OMIM:604777
Meige Disease	Edema of the dorsum of hands, Skin ulcer, Predominantly lower limb lymphedema, Lymphedema, Pleura...	ORPHA:90186
Combined Oxidative Phosphorylation Deficiency 2	Redundant neck skin, Neonatal death, Lethargy, Edema, Small for gestational age	OMIM:610498
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Pruritus	ORPHA:254478
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Death in childhood, Skin rash, Gait ataxia, Cerebral edema, Ataxia, Lethargy, Erythema, Aggressiv...	OMIM:618321
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Jaundice, Ichthyosis, Dehydration, Death in infancy, Failure to thrive, Oligohydramnios, Small fo...	OMIM:208085
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Failure to thrive, Slender build, Small for gestational age, Progeroid facial appearance	ORPHA:50811
Hereditary Sensory And Autonomic Neuropathy Type 1	Steppage gait, Skin ulcer, Gait imbalance, Inability to walk, Hyperkeratosis, Penetrating foot ul...	ORPHA:36386
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Dry skin, Ataxia, Dysmetria, Xer...	OMIM:618527
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema, Cerebral edema, Inability to walk	ORPHA:439218
Cystinosis	Polydipsia, Dehydration, Gait disturbance, Failure to thrive, Motor stereotypy	ORPHA:213
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Ectodermal dysplasia, Fo...	OMIM:613576
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo...	OMIM:613736
Keratoderma Hereditarium Mutilans	Self-injurious behavior, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Death in childhood, Dehydration, Small for gestational age	OMIM:214150
Chronic Mucocutaneous Candidiasis	Skin ulcer, Erythema, Hyperkeratosis, Skin rash, Pruritus	ORPHA:1334
Nodular Non-Suppurative Panniculitis	Edema, Weight loss, Erythema	ORPHA:33577
Sting-Associated Vasculopathy, Infantile-Onset	Malar rash, Skin rash, Pustular rash, Failure to thrive, Pustule, Cutis marmorata, Telangiectasia...	OMIM:615934
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Dehydration, Ataxia, Lethargy	ORPHA:27
Pearson Marrow-Pancreas Syndrome	Anorexia, Hydrops fetalis, Death in childhood, Dehydration, Failure to thrive, Lethargy, Pallor, ...	OMIM:557000
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration, Weight loss	ORPHA:103910
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Bathing Suit Ichthyosis	Scaling skin, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ichthyosiform eryt...	ORPHA:100976
Aicardi-Goutieres Syndrome 1	Purpura, Inability to walk, Petechiae, Chilblains, Prolonged neonatal jaundice, Acrocyanosis, Sel...	OMIM:225750
Moynahan Syndrome	Cachexia, Hyperkeratosis	ORPHA:2574
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat...	OMIM:604117
Juvenile Dermatomyositis	Palpebral edema, Skin ulcer, Cutaneous photosensitivity, Skin rash, Dry skin, Telangiectasia of t...	ORPHA:93672
Fixed Drug Eruption	Generalized abnormality of skin, Crusting erythematous dermatitis, Erythema	ORPHA:293812
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Seborrheic dermatitis, Redundant skin, Eczematoid dermatitis, Palmoplantar hyperkeratosis, Flushi...	OMIM:259100
Darier Disease	Thickened skin, Acrokeratosis, Palmoplantar keratoderma, Skin vesicle, Pruritus, Subungual hyperk...	ORPHA:218
Gaucher Disease, Perinatal Lethal	Purpura, Polyhydramnios, Akinesia, Ichthyosis, Petechiae, Hyperkeratosis, Decreased body weight, ...	OMIM:608013
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Carnitine Deficiency, Systemic Primary	Failure to thrive, Dehydration, Lethargy	OMIM:212140
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Epidermal hyperkeratosis, Fragile skin, Cutaneous photosensitivity	OMIM:620483
Ramon Syndrome	Failure to thrive, Hyperkeratosis, Telangiectasia of the skin	ORPHA:3019
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Hyperkeratosis, Ectodermal dysplasia, Dry skin	OMIM:224750
Ichthyosis, Hystrix-Like, With Deafness	Ichthyosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Palmoplantar hyperkera...	OMIM:602540
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ...	OMIM:601952
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Palmoplantar keratoderma, Facial erythema, Folliculitis	OMIM:612843
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Dehydration, Impulsivity, Failure to thrive, Ataxia, Dysphag...	ORPHA:2131
Odontoonychodermal Dysplasia	Erythema, Dry skin, Palmoplantar erythema, Palmoplantar hyperkeratosis, Hypergranulosis, Orthoker...	OMIM:257980
8Q22.1 Microdeletion Syndrome	Lack of skin elasticity	ORPHA:178303
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Dehydration	OMIM:602722
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Gait ataxia, Abdominal obesity, Striae distensae, Aggressive behavior	OMIM:300354
Ataxia-Telangiectasia	Premature graying of hair, Prematurely aged appearance, Gait disturbance, Failure to thrive, Atax...	ORPHA:100
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Jaundice, Dehydration, Ataxia, Weight loss, Edema, Pallor, Lethargy	ORPHA:20
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Dry skin, Perianal erythema, Failure to thrive, Ataxia, Lethargy	OMIM:201100
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Cutaneous photosensitivity, Malar rash, Hyperkeratosis, Discoid lupus rash, ...	ORPHA:163525
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Cutaneous photosensitivity, Skin fragility with non-scarring blistering, Palmar hyperkeratosis, H...	ORPHA:79397
Isovaleric Acidemia	Dehydration, Lethargy	OMIM:243500
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Palmoplantar keratoderma, Thickened skin, Skin ulcer, Erythema	ORPHA:659
Glutamine Deficiency, Congenital	Neonatal death, Erythema	OMIM:610015
Short Syndrome	Small for gestational age, Reduced subcutaneous adipose tissue, Premature skin wrinkling, Promine...	OMIM:269880
Cog5-Cdg	Truncal ataxia, Oligohydramnios, Premature skin wrinkling	ORPHA:263487
Propionic Acidemia	Failure to thrive, Dehydration, Lethargy, Eczematoid dermatitis	OMIM:606054
Angioedema, Hereditary, 1	Angioedema, Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Erythema	OMIM:106100
Methylmalonyl-Coa Epimerase Deficiency	Failure to thrive, Dehydration	OMIM:251120
Cutis Laxa, Autosomal Dominant 3	Cutis laxa, Dermal translucency, Premature skin wrinkling	OMIM:616603
Dowling-Degos Disease	Generalized abnormality of skin, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Pruritus, A...	ORPHA:79145
Rheumatic Fever	Anorexia, Pallor, Gait disturbance, Erythema	ORPHA:3099
Lipodystrophy, Familial Partial, Type 7	Decreased adipose tissue around neck, Acanthosis nigricans, Dysdiadochokinesis, Pleural effusion,...	OMIM:606721
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in...	ORPHA:284426
Secondary Short Bowel Syndrome	Failure to thrive, Dehydration, Polyphagia, Weight loss	ORPHA:95427
Autosomal Agammaglobulinemia	Recurrent skin infections, Skin rash, Failure to thrive, Dehydration	ORPHA:33110
Lichen Planopilaris	Hyperkeratosis, Skin ulcer, Pruritus	ORPHA:525
Congenital Disorder Of Glycosylation, Type Im	Ichthyosis, Hyperkeratosis, Dry skin, Death in infancy, Failure to thrive, Inflammatory abnormali...	OMIM:610768
Subcorneal Pustular Dermatosis	Pustule, Pruritus, Erythema	ORPHA:48377
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Inability to walk, Dry skin, Follicular hyperkeratosis	OMIM:617066
Geroderma Osteodysplasticum	Cutis laxa, Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial ...	OMIM:231070
Tempi Syndrome	Transudative pleural effusion, Facial erythema, Ascites, Telangiectasia	ORPHA:284227
Chromomycosis	Hyperparakeratosis, Vascular skin abnormality, Predominantly lower limb lymphedema, Hyperkeratosi...	ORPHA:182
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Angioedema, Pustule, Weight loss, Erythroderma, Erythema	ORPHA:139402
Fountain Syndrome	Facial edema, Cutis marmorata, Hyperextensible skin, Erythema	ORPHA:3219
Hyperimmunoglobulinemia D With Periodic Fever	Purpura, Urticaria, Ataxia, Acrocyanosis, Erythema	ORPHA:343
Olmsted Syndrome, X-Linked	Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplanta...	OMIM:300918
Mandibuloacral Dysplasia With Type A Lipodystrophy	Prematurely aged appearance, Lack of skin elasticity, Progeroid facial appearance	ORPHA:90153
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Abnormal elasticity of skin, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Nicolaides-Baraitser Syndrome	Ichthyosis, Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Eczematoid d...	OMIM:601358
Flynn-Aird Syndrome	Hyperkeratosis, Ataxia	OMIM:136300
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Hennekam-Beemer Syndrome	Thickened skin, Urticaria, Failure to thrive, Telangiectasia of the skin, Pruritus, Skin vesicle,...	ORPHA:2135
White Sponge Nevus 2	Edema, Hyperparakeratosis	OMIM:615785
Neu-Laxova Syndrome	Polyhydramnios, Lack of skin elasticity, Ichthyosis	ORPHA:2671
Generalized Pseudohypoaldosteronism Type 1	Dehydration, Atopic dermatitis, Pustule, Weight loss, Failure to thrive in infancy	ORPHA:171876
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Neutrophilic Dermatosis, Acute Febrile	Acne inversa, Erythema, Pyoderma gangrenosum, Cystic acne	OMIM:608068
Glucose/Galactose Malabsorption	Failure to thrive, Hypertonic dehydration	OMIM:606824
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar...	OMIM:619208
Radio-Tartaglia Syndrome	Gait imbalance, Dry skin, Impulsivity, Obesity, Ataxia, Dysphagia, Motor stereotypy, Attention de...	OMIM:619312
Congenital Short Bowel Syndrome	Failure to thrive, Dehydration	OMIM:615237
Cole Disease	Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkeratosis, ...	OMIM:615522
Mitral Valve Prolapse 1	Striae distensae	OMIM:157700
Mednik Syndrome	Ichthyosis, Death in childhood, Death in infancy, Neonatal death, Erythema	OMIM:609313
Immunodeficiency 23	Chronic mucocutaneous candidiasis, Molluscum contagiosum, Eczematoid dermatitis, Vasculitis in th...	OMIM:615816
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Dehydration	OMIM:203400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Dehydration	OMIM:264350
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Dehydration	OMIM:610600
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Cutis laxa, Redundant skin, Increased number of skin folds	ORPHA:436274
Dermatomyositis	Facial erythema, Skin ulcer, V-sign, Cutaneous photosensitivity, Periorbital edema, Skin rash, Dr...	ORPHA:221
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis	OMIM:136630
Enteric Anendocrinosis	Dehydration	ORPHA:83620
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
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Eczematoid dermatitis	ORPHA:3051
Fg Syndrome Type 1	Broad-based gait, Compulsive behaviors, Slender build, Attention deficit hyperactivity disorder, ...	ORPHA:93932
Lipoid Proteinosis	Hyperkeratosis, Thickened skin, Pustule, Dysphagia, Acne	ORPHA:530
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus	OMIM:618531
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Pruritus	ORPHA:89843
Ichthyosis, Congenital, Autosomal Recessive 9	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergranulosis, ...	OMIM:615023
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Dehydration, Lethargy	OMIM:251000
Toxic Epidermal Necrolysis	Polydipsia, Skin ulcer, Dysphagia, Weight loss, Acantholysis, Erythema	ORPHA:537
Wolcott-Rallison Syndrome	Jaundice, Difficulty walking, Decreased body weight, Dehydration, Ascites	ORPHA:1667
Cholera	Miscarriage, Palmoplantar cutis laxa, Dehydration, Lethargy	ORPHA:173
Thanatophoric Dysplasia Type 1	Polyhydramnios, Excessive wrinkled skin, Acanthosis nigricans, Redundant skin, Increased nuchal t...	ORPHA:1860
Hyperchlorhidrosis, Isolated	Failure to thrive, Hypernatremic dehydration	OMIM:143860
Proteasome-Associated Autoinflammatory Syndrome 4	Edema, Erythema	OMIM:619183
Arthrogryposis Multiplex Congenita 5	Akinesia, Polyhydramnios, Premature skin wrinkling, Death in infancy	OMIM:618947
Ehlers-Danlos Syndrome, Classic-Like, 1	Hyperextensible skin, Bruising susceptibility, Poor wound healing, Soft skin, Striae distensae	OMIM:606408
Pityriasis Rubra Pilaris	Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis	OMIM:173200
Acth-Independent Macronodular Adrenal Hyperplasia	Bruising susceptibility, Agitation, Truncal obesity, Striae distensae	OMIM:219080
Stuve-Wiedemann Syndrome 1	Oligohydramnios, Premature skin wrinkling, Dysphagia, Death in infancy	OMIM:601559
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Dehydration	OMIM:177735
Olmsted Syndrome 1	Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Subungual hyperkeratosis, Palmop...	OMIM:614594
Pigmented Nodular Adrenocortical Disease, Primary, 2	Bruising susceptibility, Agitation, Truncal obesity, Striae distensae	OMIM:610475
Hereditary Acrokeratotic Poikiloderma	Skin ulcer, Ichthyosis, Xerostomia, Eczematoid dermatitis, Urticaria, Pustule, Telangiectasia of ...	ORPHA:2907
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger onto the palm, Palmopl...	OMIM:148700
Atypical Werner Syndrome	Premature graying of hair, Skin ulcer, Prematurely aged appearance, Hyperkeratosis, Decreased bod...	ORPHA:79474
Acrokeratosis Verruciformis	Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acantholysis, Acrokeratosis	OMIM:101900
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Congenital nonbullous ichthyosiform erythroderma, Cerebral edema, Dry skin, Erythema	OMIM:620510
Shigellosis	Anorexia, Purpura, Dehydration, Urticaria, Failure to thrive in infancy	ORPHA:810
Xeroderma Pigmentosum	Cutaneous photosensitivity, Hyperkeratosis, Dry skin, Conjunctival telangiectasia, Failure to thr...	ORPHA:910
Vipoma	Anorexia, Intermittent jaundice, Ascites, Dehydration, Weight loss, Subcutaneous lipoma, Erythema	ORPHA:97282
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Prematurely aged appearance, Dry skin	ORPHA:2617
Osteootohepatoenteric Syndrome	Dehydration, Prolonged neonatal jaundice, Failure to thrive, Weight loss, Pruritus	OMIM:619377
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Dehydration	ORPHA:556030
Renal Hypoplasia	Polydipsia, Dehydration, Small for gestational age	ORPHA:93101
Familial Cervical Artery Dissection	Striae distensae	ORPHA:36382
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Peau d'orange, Dry skin, Death in infancy, Failure to thrive	OMIM:614576
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosi...	OMIM:242300
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Inability to walk, Athetosis, Ataxia, Progeroid facial appearance	ORPHA:357058
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Adult-Onset Still Disease	Erythema, Skin rash, Weight loss, Joint swelling, Pruritus	ORPHA:829
Progeroid Syndrome, Petty Type	Prematurely aged appearance, Redundant skin, Cutis laxa, Reduced subcutaneous adipose tissue, Fai...	ORPHA:2963
Maxillonasal Dysplasia	Striae distensae	ORPHA:1248
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis, Dry skin	OMIM:613707
Incontinentia Pigmenti	Skin ulcer, Hyperkeratosis, Skin rash, Gait disturbance, Telangiectasia of the skin, Attention de...	ORPHA:464
Ifap Syndrome 2	Perioral erythema, Ichthyosis follicularis	OMIM:619016
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Kikuchi-Fujimoto Disease	Anorexia, Palpebral edema, Cutaneous photosensitivity, Malar rash, Skin rash, Pleural effusion, V...	ORPHA:50918
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Microscopic Polyangiitis	Skin ulcer, Skin rash, Cutis marmorata, Subcutaneous hemorrhage, Erythema	ORPHA:727
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood, Dehydration	OMIM:246450
Weill-Marchesani Syndrome 2	Thickened skin, Lack of skin elasticity, Striae distensae	OMIM:608328
Spinocerebellar Ataxia 34	Limb ataxia, Dysdiadochokinesis, Gait ataxia, Ataxia, Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Syndromic Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis	ORPHA:281090
Cardiofaciocutaneous Syndrome	Ichthyosis, Excessive wrinkled skin, Hyperextensible skin, Hyperkeratosis, Redundant skin, Lymphe...	ORPHA:1340
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Hyperkeratosis, Dysphagia	OMIM:616029
Mass Syndrome	Striae distensae	OMIM:604308
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Keppen-Lubinsky Syndrome	Failure to thrive, Polyhydramnios, Premature skin wrinkling, Progeroid facial appearance	ORPHA:435628
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Failure to thrive, Excessive wrinkled skin, Ataxia	ORPHA:3322
Acute Radiation Syndrome	Scaling skin, Skin ulcer, Hyperkeratosis, Inflammatory abnormality of the skin, Telangiectasia	ORPHA:454831
Stevens-Johnson Syndrome	Acantholysis, Weight loss, Dysphagia, Erythema	ORPHA:36426
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Telangiectasia of extensor surfaces, Palpebral edema, Lymphedema, Facial telangiectasia in butter...	OMIM:137940
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Generalized abnormality of skin, Fragile skin, Failure to thrive, Palmoplantar keratoderma, Recur...	ORPHA:79396
Congenital Disorder Of Glycosylation, Type Iir	Cutis laxa, Jaundice, Ascites	OMIM:301045
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis,...	OMIM:308050
Trichothiodystrophy 1, Photosensitive	Cutaneous photosensitivity, Hyperkeratosis, Dry skin, Death in infancy, Congenital nonbullous ich...	OMIM:601675
Milroy Disease	Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, Pedal edema	ORPHA:79452
Fontaine Progeroid Syndrome	Premature skin wrinkling, Prematurely aged appearance, Redundant skin, Death in infancy, Reduced ...	OMIM:612289
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Skin rash, Dry skin, Urticaria...	ORPHA:220295
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Dehydration, Lethargy	OMIM:251110
Corneodermatoosseous Syndrome	Palmoplantar keratoderma, Thickened skin, Erythema	ORPHA:3194
Congenital Tufting Enteropathy	Failure to thrive, Dehydration, Weight loss	ORPHA:92050
Cutis Laxa, Autosomal Recessive, Type Iia	Cutis laxa, Failure to thrive, Redundant skin, Excessive wrinkled skin	OMIM:219200
Neonatal Inflammatory Skin And Bowel Disease	Generalized abnormality of skin, Scaling skin, Recurrent bacterial skin infections, Pustule, Psor...	ORPHA:294023
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Dehydration	OMIM:615453
Rafiq Syndrome	Cutis laxa, Obesity, Ataxia, Truncal obesity, Aggressive behavior	OMIM:614202
Chikungunya	Maculopapular exanthema, Cutaneous photosensitivity, Petechiae, Pedal edema, Skin rash, Joint swe...	ORPHA:324625
Pyruvate Carboxylase Deficiency	Anorexia, Abnormal temper tantrums, Tip-toe gait, Recurrent hand flapping, Compulsive behaviors, ...	ORPHA:3008
Lig4 Syndrome	Telangiectasia of the skin, Erythema, Cutaneous photosensitivity	ORPHA:99812
Sialidosis Type 1	Hyperkeratosis, Ataxia, Gait disturbance, Vascular skin abnormality	ORPHA:812
Xfe Progeroid Syndrome	Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Ascites, Dry skin, Death in ad...	OMIM:610965
Chronic Graft Versus Host Disease	Anorexia, Skin ulcer, Morphea, Xerostomia, Pleural effusion, Ascites, Thickened skin, Dysphagia, ...	ORPHA:99921
Acrokeratosis Verruciformis Of Hopf	Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	ORPHA:79151
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Abnormal subcutaneous fat tissue distribution, Redundant neck skin, Excessive wrinkled skin, Redu...	ORPHA:357074
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Failure to thrive, Slender build, Small for gestational age, Progeroid facial appearance	OMIM:608154
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Cutis laxa, Redundant skin	ORPHA:91135
Pigmented Nodular Adrenocortical Disease, Primary, 1	Bruising susceptibility, Agitation, Truncal obesity, Striae distensae	OMIM:610489
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Dehydration, Lethargy	OMIM:251100
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Ichthyosis, Erythroderma, Hypergranulosis, Failure to thrive, Palmoplantar keratoderma, Recurrent...	OMIM:615508
Neonatal Lupus Erythematosus	Parakeratosis, Cutaneous photosensitivity, Malar rash, Hyperkeratosis, Skin rash, Maculopapular e...	ORPHA:398124
Adrenal Hypoplasia, Congenital	Failure to thrive, Dehydration	OMIM:300200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Kindler Epidermolysis Bullosa	Cutaneous photosensitivity, Hyperkeratosis, Dysphagia, Palmoplantar keratoderma, Recurrent skin i...	ORPHA:2908
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia, Polyhydramnios, Failure to thrive, Hypernatremic dehydration	ORPHA:223
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hidrotic ectodermal dysplasia, Hyperkeratosis	ORPHA:1883
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkera...	ORPHA:79280
Kanzaki Disease	Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Petechiae...	OMIM:609242
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration, Ataxia, Choreoathetosis	OMIM:616271
Ataxia-Telangiectasia-Like Disorder 2	Cutaneous telangiectasia, Cutaneous photosensitivity, Conjunctival telangiectasia, Ataxia, Dyspha...	OMIM:615919
Cutis Laxa, Autosomal Recessive, Type Iiib	Excessive wrinkled skin, Athetosis, Cutis laxa, Dermal translucency, Prominent superficial veins	OMIM:614438
Autosomal Dominant Cutis Laxa	Redundant neck skin, Hyperextensible skin, Premature skin wrinkling, Prematurely aged appearance,...	ORPHA:90348
Autosomal Recessive Cutis Laxa Type 1	Cutis laxa, Redundant skin, Lack of skin elasticity	ORPHA:90349
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Scaling skin, Facial erythema, Dry skin, Sclerodactyly, Palmoplantar keratoderma, Poor wound healing	ORPHA:1010
Riddle Syndrome	Scaling skin, Gait disturbance, Conjunctival telangiectasia, Ataxia, Weight loss, Erythema, Telan...	ORPHA:420741
Acrokeratoelastoidosis Of Costa	Hypergranulosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis	ORPHA:38
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Premature skin wrinkling, Scleroderma	ORPHA:363618
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Failure to thrive, Hyperkeratosis, Death in childhood	OMIM:301108
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Palmoplantar Keratoderma, Punctate Type Ia	Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis	OMIM:148600
Focal Facial Dermal Dysplasia Type Iii	Prematurely aged appearance, Redundant skin	ORPHA:1807
Oligomeganephronia	Polydipsia, Dehydration, Small for gestational age	ORPHA:2260
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Polyhydramnios, Dehydration	OMIM:214700
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Skin vesicle, Hyperkeratotic papule, Pruritus, Fragile skin	ORPHA:79410
Poikiloderma With Neutropenia	Hyperkeratosis, Skin rash, Palmoplantar keratoderma, Edema, Plantar hyperkeratosis, Telangiectasia	OMIM:604173
Scleromyxedema	Generalized abnormality of skin, Sclerodactyly, Thickened skin, Dysphagia, Aged leonine appearanc...	ORPHA:167635
Geleophysic Dysplasia 1	Thickened skin, Lack of skin elasticity	OMIM:231050
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Dry skin, Eczematoid dermatitis, Failure to thrive, Xerostomia	ORPHA:238468
Cockayne Syndrome	Difficulty walking, Premature skin wrinkling, Inability to walk, Cutaneous photosensitivity, Mala...	ORPHA:191
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
De Barsy Syndrome	Excessive wrinkled skin, Progressive cerebellar ataxia, Prominent veins on trunk, Athetosis, Cuti...	ORPHA:2962
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Jaundice, Ichthyosis, Dry skin, Orthokeratosis, Pruritus	OMIM:607626
Hidrotic Ectodermal Dysplasia	Cobblestone-like hyperkeratosis, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Severe failure to thrive, Premature skin wrinkling, Prominent su...	ORPHA:740
Rothmund-Thomson Syndrome Type 1	Facial erythema, Attention deficit hyperactivity disorder, Facial edema, Porokeratosis, Small for...	ORPHA:221008
Ogden Syndrome	Pulmonary edema, Redundant neck skin, Jaundice, Prematurely aged appearance, Redundant skin, Lymp...	OMIM:300855
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis	OMIM:617388
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance	OMIM:227260
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Incontinentia Pigmenti	Maculopapular exanthema, Hyperkeratosis, Pallor, Erythema	OMIM:308300
Rothmund-Thomson Syndrome Type 2	Facial erythema, Plantar hyperkeratosis, Facial edema, Porokeratosis, Small for gestational age, ...	ORPHA:221016
Barber-Say Syndrome	Dry skin, Redundant skin, Dermal translucency, Premature skin wrinkling	OMIM:209885
Cardiofaciocutaneous Syndrome 3	Failure to thrive, Hyperkeratosis	OMIM:615279
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Parakeratosis, Ectodermal dysplasia, Follicular hyperkeratosis	OMIM:615225
Microvillus Inclusion Disease	Dehydration, Pruritus	ORPHA:2290
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin	ORPHA:137608
Campomelia, Cumming Type	Hydrops fetalis, Prematurely aged appearance, Lymphedema, Death in infancy, Oligohydramnios	ORPHA:1318
Ehlers-Danlos Syndrome, Classic-Like, 2	Hyperextensible skin, Prematurely aged appearance, Redundant skin, Bruising susceptibility, Poor ...	OMIM:618000
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Glucagonoma	Anorexia, Skin rash, Intermittent jaundice, Ascites, Weight loss, Subcutaneous lipoma, Necrolytic...	ORPHA:97280
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Jaundice, Dehydration, Failure to thrive, Ataxia, Lethargy	ORPHA:79282
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Acne, Dorsocervical fat pad, Bruising susceptibility, Plethora, Abdominal ...	ORPHA:189427
Cushing Disease	Purpura, Skin ulcer, Increased body weight, Abdominal obesity, Plethora, Ecchymosis, Acne, Dorsoc...	ORPHA:96253
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Scaling skin, Death in childhood, Ichthyosis follicularis, Hydromyelia, Hyperkeratosis, Ectoderma...	OMIM:308205
Acquired Partial Lipodystrophy	Progeroid facial appearance	ORPHA:79087
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Oligohydramnios, Dehydration	OMIM:263200
Ichthyosis, Congenital, Autosomal Recessive 11	Congenital ichthyosiform erythroderma, Hyperkeratosis, Pruritus	OMIM:602400
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis, Skin rash, Pustule, Joint swelling, Failure to thrive in infancy	OMIM:612852
Tylosis With Esophageal Cancer	Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis	OMIM:148500
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Limb ataxia, Difficulty walking, Truncal ataxia, Gait disturbance, Unsteady gait, Dysphagia, Prog...	ORPHA:412057
Lysosomal Acid Lipase Deficiency	Jaundice, Cachexia, Dehydration, Ascites, Failure to thrive, Weight loss, Pruritus	ORPHA:275761
Wiedemann-Rautenstrauch Syndrome	Premature skin wrinkling, Prematurely aged appearance, Truncal ataxia, Dry skin, Prominent scalp ...	OMIM:264090
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Hyperkeratosis, Cutis marmorata	OMIM:301220
Laron Syndrome	Prematurely aged appearance, Truncal obesity	ORPHA:633
Localized Scleroderma	Thickened skin, Erythema	ORPHA:90289
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance	ORPHA:1387
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Excessive wrinkled skin, Hyperextensible skin, Soft skin, Bruising susceptibility, Poor wound hea...	OMIM:225400
Infantile Nephropathic Cystinosis	Polydipsia, Failure to thrive, Dehydration	ORPHA:411629
Ectodermal Dysplasia-Skin Fragility Syndrome	Scaling skin, Difficulty walking, Fragile skin, Failure to thrive, Palmoplantar keratoderma, Recu...	ORPHA:158668
Marburg Hemorrhagic Fever	Anorexia, Jaundice, Petechiae, Skin rash, Dehydration, Bruising susceptibility, Lethargy, Maculop...	ORPHA:99826
Man1B1-Cdg	Cutis laxa, Truncal obesity, Polyphagia, Broad-based gait	ORPHA:397941
Pearson Syndrome	Hydrops fetalis, Cutaneous photosensitivity, Corneal stromal edema, Dehydration, Ataxia, Dysphagi...	ORPHA:699
Short Syndrome	Excessive wrinkled skin, Weight loss	ORPHA:3163
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Scaling skin, Tip-toe gait, Facial erythema, Ichthyosis, Broad-based gait, Falls, Dry skin, Impul...	OMIM:619503
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Large for gestational age, Polyhydramnios, Hyperextensible skin, Ichthyosis, Hyperactivity, Hyper...	OMIM:607721
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Warburg-Cinotti Syndrome	Joint swelling, Poor wound healing, Erythema, Follicular hyperkeratosis	OMIM:618175
Opitz-Kaveggia Syndrome	Attention deficit hyperactivity disorder, Facial wrinkling	OMIM:305450
Familial Tumoral Calcinosis	Skin rash, Erythema	ORPHA:53715
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Cutaneous photosensitivity, Gait ataxia, Cutis marmorata, Progeroid facial appe...	OMIM:300953
Fucosidosis	Failure to thrive, Generalized hyperkeratosis, Vascular skin abnormality, Acrocyanosis	ORPHA:349
Premature Aging Syndrome, Penttinen Type	Prematurely aged appearance, Corneal stromal edema, Hyperkeratosis, Thickened skin, Failure to th...	OMIM:601812
Chime Syndrome	Hyperkeratosis, Skin ulcer, Erythema, Ichthyosis	ORPHA:3474
Scorpion Envenomation	Pulmonary edema, Purpura, Ataxia, Restlessness, Edema, Erythema	ORPHA:466677
Wiedemann-Rautenstrauch Syndrome	Acanthosis nigricans, Premature skin wrinkling, Truncal ataxia, Prominent scalp veins, Reduced su...	ORPHA:3455
Autoinflammatory Disease, Systemic, With Vasculitis	Purpura, Jaundice, Hydrops fetalis, Atopic dermatitis, Urticaria, Failure to thrive, Periorbital ...	OMIM:620376
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Dehydration	ORPHA:90791
Macs Syndrome	Palpebral edema, Ichthyosis, Hyperextensible skin, Redundant skin, Decreased body weight, Cutis l...	OMIM:613075
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Dehydration, Ataxia, Weight loss	ORPHA:99885
Melas	Failure to thrive, Gait disturbance, Ataxia, Erythema	ORPHA:550
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Jaundice, Excessive wrinkled skin, Death in infancy	OMIM:608779
Bloom Syndrome	Facial erythema, Cutaneous photosensitivity, Malar rash, Facial telangiectasia in butterfly midfa...	OMIM:210900
Ectopia Lentis 1, Isolated, Autosomal Dominant	Striae distensae	OMIM:129600
Oculocerebrorenal Syndrome Of Lowe	Skin ulcer, Dehydration, Compulsive behaviors, Death in infancy, Failure to thrive, Joint swellin...	ORPHA:534
Hyperoxaluria, Primary, Type I	Cutis marmorata, Dehydration, Acrocyanosis	OMIM:259900
Cutis Laxa, Autosomal Dominant 1	Hyperextensible skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Poor wound healing...	OMIM:123700
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Cutis laxa, Hyperextensible skin, Progeroid facial appearance	ORPHA:75496
Kid Syndrome	Scaling skin, Recurrent cutaneous fungal infections, Follicular hyperkeratosis, Congenital ichthy...	ORPHA:477
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Skin rash, Erysipelas, Periorbital edema, Bruising susceptibility, Erythema	ORPHA:32960
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Behcet Syndrome	Erythema nodosum, Erythema	OMIM:109650
Noonan Syndrome 10	Hyperextensible skin, Hyperkeratosis, Pleural effusion, Increased nuchal translucency, Palmoplant...	OMIM:616564
Dermatosparaxis Ehlers-Danlos Syndrome	Hyperextensible skin, Excessive wrinkled skin, Abnormality of subcutaneous fat tissue	ORPHA:1901
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer	ORPHA:1806
Naxos Disease	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Fragile skin, Subungual hyperkeratosis, Palm...	OMIM:601214
Pachyonychia Congenita	Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Failure to t...	ORPHA:2309
Agel Amyloidosis	Dermatological manifestations of systemic disorders, Xerostomia, Dry skin, Cutis laxa, Ataxia, Bl...	ORPHA:85448
Dend Syndrome	Dehydration	ORPHA:79134
Blau Syndrome	Skin ulcer, Ichthyosis, Xerostomia, Skin rash, Dry skin, Joint swelling, Erythema nodosum, Erythema	ORPHA:90340
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Tip-toe gait, Agitation, Excessive wrinkled skin, Hyperextensible skin, Prematurely aged appearan...	OMIM:619950
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Bruising susceptibility, Soft skin, Hyperextensible skin	OMIM:225320
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Hyperextensible skin, Waddling gait, Cutis laxa, Bruising susceptibility, Soft sk...	OMIM:614557
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Dehydration	ORPHA:18
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Acanthosis nigricans, Death in adolescence, Failure to thrive, Erythem...	OMIM:256040
Loeys-Dietz Syndrome 4	Hyperextensible skin, Cutis laxa, Bruising susceptibility, Soft skin, Striae distensae	OMIM:614816
Hermansky-Pudlak Syndrome	Anorexia, Hyperkeratosis, Thickened skin, Weight loss, Bruising susceptibility	ORPHA:79430
Neuroleptic Malignant Syndrome	Agitation, Dehydration, Dysphagia	ORPHA:94093
Juvenile Nephropathic Cystinosis	Polydipsia, Failure to thrive, Dehydration	ORPHA:411634
Cutis Laxa, Autosomal Recessive, Type Iiia	Hyperextensible skin, Prominent superficial blood vessels, Athetosis, Cutis laxa, Failure to thrive	OMIM:219150
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Peripheral edema, Purpura, Skin ulcer, Increased body weight, Abdominal obesity, Pletho...	ORPHA:99889
Familial Mediterranean Fever	Erythema, Skin rash, Ascites, Erysipelas, Pedal edema	ORPHA:342
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Skin rash, Pleural empyema, Chronic mucocutaneous candidiasis, Eczemato...	OMIM:147060
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Eczematoid dermatitis, Orthokeratosis, Acne inversa, Subungual hyperkeratosis	OMIM:617337
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Prominent superficial veins	ORPHA:2583
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Prematurely aged appearance, Lack of facial subcutaneous fat, Small for gestati...	ORPHA:2959
Adrenocortical Carcinoma	Increased body weight, Striae distensae, Weight loss	ORPHA:1501
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa	OMIM:614100
Geroderma Osteodysplastica	Prematurely aged appearance, Redundant skin, Hyperextensible skin	ORPHA:2078
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis, Ataxia	ORPHA:28378
Werner Syndrome	Prematurely aged appearance, Scleroderma, Subcutaneous calcification, Progeroid facial appearance	OMIM:277700
Donohue Syndrome	Hyperkeratosis, Severe failure to thrive, Acanthosis nigricans	OMIM:246200
Microsporidiosis	Anorexia, Cachexia, Dehydration, Weight loss	ORPHA:2552
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Cystinosis, Nephropathic	Polydipsia, Dehydration, Failure to thrive, Dysphagia, Weight loss, Failure to thrive in infancy	OMIM:219800
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Severe Generalized Junctional Epidermolysis Bullosa	Pyoderma, Dehydration, Fragile skin, Failure to thrive, Edema, Recurrent skin infections	ORPHA:79404
Focal Dermal Hypoplasia	Telangiectasia of the skin, Erythema	ORPHA:2092
Ablepharon-Macrostomia Syndrome	Dry skin, Redundant skin, Premature skin wrinkling	OMIM:200110
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Polyhydramnios, Dehydration, Failure to thrive, Small for gestational age	OMIM:241200
Ehlers-Danlos Syndrome, Periodontal Type, 1	Hyperextensible skin, Fragile skin, Soft skin, Bruising susceptibility, Poor wound healing, Palmo...	OMIM:130080
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Bethlem Muscular Dystrophy	Hyperkeratosis, Difficulty walking, Waddling gait, Gait disturbance	ORPHA:610
Recon Progeroid Syndrome	Scaling skin, Progeroid facial appearance, Cutaneous photosensitivity, Dry skin, Livedo reticularis	OMIM:620370
Bartter Syndrome Type 4	Polyhydramnios, Severe failure to thrive, Dehydration, Failure to thrive, Small for gestational age	ORPHA:89938
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Ichthyosis, Tongue thrusting, Hyperkeratosis, Atopic dermatitis, Failure to thrive	OMIM:115150
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Ectodermal dysplasia, Dry skin	OMIM:601701
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Ichthyosis, Hyperkeratosis, Eczematoid dermatitis, Urticaria, Failure to thrive, Erythema	ORPHA:2273
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Follicular hyperkeratosis	OMIM:254090
Ramon Syndrome	Hyperkeratosis, Decreased body weight, Angiokeratoma, Telangiectasia	OMIM:266270
Proximal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Dehydration	ORPHA:47159
Gapo Syndrome	Prematurely aged appearance, Palpebral edema, Hyperextensible skin	ORPHA:2067
Arterial Tortuosity Syndrome	Hyperextensible skin, Cutis laxa, Bruising susceptibility, Soft skin, Telangiectases of the cheek...	OMIM:208050
Congenital Ichthyosiform Erythroderma	Ichthyosis, Erythroderma, Failure to thrive, Palmoplantar keratoderma, Pruritus	ORPHA:79394
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Wrinkly Skin Syndrome	Redundant skin, Failure to thrive, Palmoplantar cutis laxa, Neonatal wrinkled skin of hands and f...	OMIM:278250
Fibromuscular Dysplasia, Multifocal	Hyperextensible skin, Soft skin, Dermal translucency, Striae distensae, Soft, doughy skin	OMIM:619329
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Ataxia, Dysphagia	OMIM:615510
Bone Marrow Failure Syndrome 3	Hyperactivity, Failure to thrive, Hyperkeratosis, Eczematoid dermatitis	OMIM:617052
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:168558
Fabry Disease	Anorexia, Hyperkeratosis, Lymphedema, Conjunctival telangiectasia, Telangiectasia of the skin, An...	ORPHA:324
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Dehydration	ORPHA:289548
Trichothiodystrophy	Ichthyosis, Cutaneous photosensitivity, Prematurely aged appearance, Dry skin, Eczematoid dermati...	ORPHA:33364
Colchicine Poisoning	Dehydration	ORPHA:31824
Classical Ehlers-Danlos Syndrome	Hyperextensible skin, Blepharochalasis, Prematurely aged appearance, Fragile skin, Ecchymosis, Ac...	ORPHA:287
Cockayne Syndrome B	Severe failure to thrive, Death in childhood, Cutaneous photosensitivity, Prematurely aged appear...	OMIM:133540
Cockayne Syndrome Type 2	Difficulty walking, Ataxia, Gait disturbance, Progeroid facial appearance	ORPHA:90322
Noonan Syndrome 2	Redundant neck skin, Polyhydramnios, Hyperextensible skin, Hyperkeratosis, Increased nuchal trans...	OMIM:605275
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Zollinger-Ellison Syndrome	Jaundice, Weight loss, Erythema	ORPHA:913
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Multiple Endocrine Neoplasia Type 1	Anorexia, Dehydration, Lethargy, Weight loss	ORPHA:652
De Sanctis-Cacchione Syndrome	Parakeratosis, Scissor gait, Cutaneous photosensitivity, Ataxia, Choreoathetosis, Telangiectasia	OMIM:278800
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Ectodermal dysplasia, Dry skin, Xerostomia	OMIM:614941
Noonan Syndrome With Multiple Lentigines	Hyperextensible skin, Excessive wrinkled skin	ORPHA:500
Sympathetic Ophthalmia	Macular edema, Erythema	ORPHA:79098
Pachyonychia Congenita 3	Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis, Chapped lip, Follicular ...	OMIM:615726
Bartter Syndrome, Type 1, Antenatal	Failure to thrive, Polyhydramnios, Dehydration, Small for gestational age	OMIM:601678
Cutis Laxa, Autosomal Recessive, Type Ia	Hyperextensible skin, Redundant skin, Cutis laxa, Poor wound healing, Oligohydramnios	OMIM:219100
Urachal Cyst	Erythema	ORPHA:488
Kawasaki Disease	Jaundice, Skin rash, Scaling skin on fingertip, Palmoplantar erythema, Edema	ORPHA:2331
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Ichthyosis, Recurrent bacterial skin infections	OMIM:148210
Cutis Laxa, Autosomal Recessive, Type Ic	Death in childhood, Redundant skin, Ascites, Death in infancy, Cutis laxa, Periorbital edema, Pro...	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, Dehydration, Failure to thrive, Weight loss, Acne	ORPHA:90794
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bruising susceptibility, Soft skin, Hyperextensible skin, Fragile skin	OMIM:617821
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Hyperextensible skin, Decreased body weight, Cutis laxa, Soft skin, Dermal translucency	OMIM:615349
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Hypohidrotic ectodermal dysplasia	OMIM:224900
Leprechaunism	Hyperextensible skin, Acanthosis nigricans, Hyperkeratosis, Decreased body weight, Thickened skin...	ORPHA:508
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Oligohydramnios, Bruising susceptibility, Progeroid facial a...	OMIM:616914
Cystic Fibrosis	Failure to thrive, Dehydration	OMIM:219700
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Cockayne Syndrome Type 1	Difficulty walking, Cutaneous photosensitivity, Gait disturbance, Failure to thrive, Ataxia, Prog...	ORPHA:90321
Wrinkly Skin Syndrome	Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Progressive cer...	ORPHA:2834
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Death in early adulthood, Prominent superficial veins, Prog...	OMIM:608612
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Progeroid facial appearance	OMIM:617763
Reactive Arthritis	Joint swelling, Hyperkeratosis, Pustule, Weight loss	ORPHA:29207
Cockayne Syndrome A	Cutaneous photosensitivity, Prematurely aged appearance, Dry skin, Gait disturbance, Reduced subc...	OMIM:216400
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Dehydration	ORPHA:96191
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Erythema	ORPHA:2556
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Arterial Tortuosity Syndrome	Prematurely aged appearance, Redundant skin, Hyperextensible skin, Telangiectasia of the skin	ORPHA:3342
Primary Fanconi Renotubular Syndrome	Dehydration, Weight loss	ORPHA:3337
Relapsing Polychondritis	Purpura, Erythema	ORPHA:728
Koolen-De Vries Syndrome Due To A Point Mutation	Ichthyosis, Hyperkeratosis, Ectodermal dysplasia, Eczematoid dermatitis, Slender build, Inappropr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ichthyosis, Hyperkeratosis, Ectodermal dysplasia, Eczematoid dermatitis, Slender build, Inappropr...	ORPHA:363958
Loeys-Dietz Syndrome 6	Bruising susceptibility, Dermal translucency, Striae distensae, Soft skin	OMIM:619656
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Cutis laxa, Polyhydramnios	OMIM:270420
Multiple Endocrine Neoplasia Type 4	Subcutaneous lipoma, Erythema	ORPHA:276152
Kyphoscoliotic Ehlers-Danlos Syndrome	Difficulty walking, Hyperextensible skin, Fragile skin, Bruising susceptibility, Poor wound heali...	ORPHA:536545
Ablepharon Macrostomia Syndrome	Redundant skin, Excessive wrinkled skin, Dry skin	ORPHA:920
Trichorhinophalangeal Syndrome, Type Iii	Epidermal hyperkeratosis	OMIM:190351
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Failure to thrive, Palmoplantar erythema, Motor stereotypy, Self-injurious behavior, Truncal obesity	OMIM:612474
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Or...	ORPHA:79501
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Dry skin, Prominent superficial veins, Progeroid facial appearance	OMIM:614008
Cerebrotendinous Xanthomatosis	Agitation, Prematurely aged appearance, Gait disturbance, Prolonged neonatal jaundice, Ataxia, At...	ORPHA:909
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Acanthosis nigricans, Reduced subcutaneous adipose tissue, Minimal sub...	ORPHA:280365
Xeroderma Pigmentosum, Complementation Group B	Ataxia, Cutaneous photosensitivity, Progeroid facial appearance	OMIM:610651
Restrictive Dermopathy 1	Scaling skin, Stillbirth, Polyhydramnios, Prominent superficial blood vessels, Neonatal death, Ep...	OMIM:275210
Seckel Syndrome	Prematurely aged appearance, Cachexia	ORPHA:808
Aortic Aneurysm, Familial Thoracic 10	Striae distensae	OMIM:617168
Eec Syndrome	Hyperkeratosis, Dry skin, Xerostomia	ORPHA:1896
Meester-Loeys Syndrome	Bruising susceptibility, Poor wound healing, Striae distensae	OMIM:300989
Down Syndrome	Prematurely aged appearance, Obesity, Gait disturbance	ORPHA:870
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Death in childhood, Hyperkeratosis, Dry skin, Death in infancy, Prolonged neonatal ja...	OMIM:210710
Lymphatic Filariasis	Hyperkeratosis, Lymphedema, Predominantly lower limb lymphedema	ORPHA:2035
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prematurely aged appearance, Progeroid facial appearance	ORPHA:90154
Saul-Wilson Syndrome	Prominent superficial veins, Progeroid facial appearance	OMIM:618150
6Q Terminal Deletion Syndrome	Hyperkeratosis, Gait ataxia, Failure to thrive, Obesity, Dysmetria	ORPHA:75857
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Sclerodactyly	OMIM:610644
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Failure to thrive, Polyhydramnios, Progeroid facial appearance	OMIM:614098
Marfan Syndrome	Attention deficit hyperactivity disorder, Cachexia, Slender build, Striae distensae	ORPHA:558
Leprosy	Hyperkeratosis, Penetrating foot ulcers, Steppage gait, Acral ulceration	ORPHA:548
Chromosome Xp11.3 Deletion Syndrome	Progeroid facial appearance	OMIM:300578
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Periorbital wrinkles, Dry skin, Eczematoid dermatitis, Hypohidrotic ectodermal dysplasia, Soft skin	OMIM:305100
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Fragile skin	OMIM:614748
Acquired Generalized Lipodystrophy	Acanthosis nigricans, Progeroid facial appearance	ORPHA:79086
Baller-Gerold Syndrome	Erythema	OMIM:218600
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormal temper tantrums, Epidermal thickening, Impulsivity, Thickened skin, Orthokeratotic hyper...	ORPHA:73223
Cowden Syndrome	Generalized hyperkeratosis, Failure to thrive, Ataxia, Palmoplantar keratoderma, Mucosal telangie...	ORPHA:201
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Telangiectasia of the skin, Hyperparakeratosis	ORPHA:276280
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Follicular hyperkeratosis	OMIM:158310
Nelson Syndrome	Striae distensae	ORPHA:199244
Williams Syndrome	Gait imbalance, Death in early adulthood, Prematurely aged appearance, Redundant skin, Compulsive...	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	Scaling skin, Polyhydramnios, Generalized hyperkeratosis, Epidermal hyperkeratosis, Dermal transl...	ORPHA:1662
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Ectodermal dysplasia, Xerostomia	OMIM:604292
Lenz-Majewski Hyperostotic Dwarfism	Prematurely aged appearance, Redundant skin	ORPHA:2658
Loeys-Dietz Syndrome 1	Dermal translucency, Striae distensae, Soft skin	OMIM:609192
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis, Ectodermal dysplasia, Xerostomia	OMIM:129900
Hypermobile Ehlers-Danlos Syndrome	Hyperextensible skin, Acrocyanosis, Bruising susceptibility, Soft skin, Striae distensae	ORPHA:285
Loeys-Dietz Syndrome	Bruising susceptibility, Striae distensae	ORPHA:60030
Loeys-Dietz Syndrome 2	Dermal translucency, Striae distensae, Soft skin	OMIM:610168
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltrate, Ec...	ORPHA:83617
Cutis Laxa, Autosomal Recessive, Type Ib	Death in childhood, Cutis laxa, Neonatal death, Soft skin, Dermal translucency, Oligohydramnios	OMIM:614437
Carney Complex	Increased body weight, Abdominal obesity, Dorsocervical fat pad, Bruising susceptibility, Striae ...	ORPHA:1359
Mandibuloacral Dysplasia Progeroid Syndrome	Progeroid facial appearance, Death in childhood, Palmoplantar hyperkeratosis	OMIM:619127
Aneurysm-Osteoarthritis Syndrome	Bruising susceptibility, Striae distensae	ORPHA:284984
Loeys-Dietz Syndrome 3	Bruising susceptibility, Dermal translucency, Striae distensae, Soft skin	OMIM:613795
Vascular Ehlers-Danlos Syndrome	Excessive wrinkled skin, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin,...	ORPHA:286
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Proteus Syndrome	Abnormal subcutaneous fat tissue distribution, Generalized hyperkeratosis, Vascular skin abnormal...	ORPHA:744
Branchioskeletogenital Syndrome	Periorbital wrinkles, Blepharochalasis	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us