Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
Matching phenotypes Source
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... ORPHA:281127
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Generalized abnormality of skin, Palmoplantar hyperkeratosis, Po... ORPHA:737
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritu... ORPHA:498359
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis OMIM:607602
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Porokeratosis Of Mibelli
Pruritus, Cutaneous photosensitivity, Porokeratosis, Hyperkeratosis ORPHA:735
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer ORPHA:2337
Acquired Ichthyosis
Pruritus, Erythema, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratos... ORPHA:454
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... ORPHA:64745
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... ORPHA:87503
Huriez Syndrome
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly ORPHA:384
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Chronic Hiccup
Weight loss, Dehydration, Abnormal eating behavior ORPHA:396
Lamellar Ichthyosis
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Dry skin, Dehydration ORPHA:313
Mastocytosis, Cutaneous
Urticaria, Edema, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis... ORPHA:530838
Classic Mycosis Fungoides
Eczema, Pruritus, Edema, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer ORPHA:2584
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema ORPHA:79100
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas ORPHA:228240
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis OMIM:212360
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Reduced subcutaneous adipose tissue, Mo... ORPHA:90158
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Cutaneous photosensitivity ORPHA:33314
Progeroid facial appearance, Thickened skin, Premature skin wrinkling OMIM:221790
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Fragile skin, Hyperkeratosis OMIM:615028
Dermatitis, Atopic
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Ichthyosis, Facial erythema, Dry ... OMIM:603165
Cutaneous Photosensitivity And Colitis, Lethal
Death in infancy, Early cutaneous photosensitivity, Erythema OMIM:219095
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Pruritus, Erythema, Prominent super... ORPHA:280779
Hyperkeratosis-Hyperpigmentation Syndrome
Cutaneous photosensitivity, Hyperkeratosis ORPHA:1336
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Cutaneous photosensitivity, Weight loss, Erythema, Skin rash,... ORPHA:317
Cutaneous Mastocytoma
Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Telangiectasia of the skin, Dermat... ORPHA:79455
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Familial Cold Urticaria
Polydipsia, Pruritus, Erythema, Urticaria, Dehydration ORPHA:47045
Acral Peeling Skin Syndrome
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... OMIM:613943
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Cutaneous photosensitivity, Weight loss, Palmoplantar keratoderma, Ichthyosis, Hype... ORPHA:312
Mal De Meleda
Perioral erythema, Congenital symmetrical palmoplantar keratosis, Ichthyosis OMIM:248300
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue ORPHA:90160
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Erythema, Palmoplantar keratoderma, Ichthyosis ORPHA:455
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Erosive Pustular Dermatosis Of The Scalp
Erythema, Pustule ORPHA:222
Quinquaud Folliculitis Decalvans
Erythema, Pustule, Recurrent skin infections ORPHA:346
Cutaneous Small Vessel Vasculitis
Erythema, Urticaria, Cutis marmorata, Recurrent skin infections, Purpura, Skin rash ORPHA:889
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue, Vasculitis i... ORPHA:90159
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Palmoplantar keratoderma, Reduced subcutaneous adipose tissue, Thickened s... ORPHA:1979
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Ulerythema Ophryogenesis
Hyperkeratotic papule, Contact dermatitis, Acne, Follicular hyperkeratosis, Facial erythema, Dry ... ORPHA:3406
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flu... ORPHA:79457
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:606545
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Pharyngeal edema, Angioedema, Erythema, Facial edema, Palpebral edema, Laryngeal edema ORPHA:100057
Sjögren-Larsson Syndrome
Erythema, Urticaria, Ichthyosis, Hyperkeratosis, Dry skin ORPHA:816
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Macular telangiectasia, Hyperkeratosis ORPHA:69125
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Pruritus, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Erythema, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis OMIM:615821
Reticular Dysgenesis
Failure to thrive, Weight loss, Skin rash, Dehydration, Skin ulcer ORPHA:33355
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Transaldolase Deficiency
Telangiectasia, Edema, Premature skin wrinkling, Hydrops fetalis ORPHA:101028
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Thickened skin, Hyperkeratosis ORPHA:1659
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Weight loss, Dehydration, Lethargy ORPHA:178029
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Cutis marmorata, Mala... ORPHA:90280
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Parakeratosis ORPHA:83453
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Antisynthetase Syndrome
Dysphagia, Xerostomia, Pruritus, Edema, Telangiectasia of the skin, Lack of skin elasticity, Skin... ORPHA:81
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles, Hyperextensible skin of chest, Hyperextensible skin of face OMIM:227210
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Edema, Dehydration, Pustule OMIM:616069
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Autosomal Erythropoietic Protoporphyria
Eczema, Cutaneous photosensitivity, Pruritus, Edema, Erythema ORPHA:79278
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Cutis laxa, Ascites, Small for gestational age, Failure to thrive, Edema, Abnormality of subcutan... ORPHA:79325
Keratolytic Winter Erythema
Erythema OMIM:148370
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Erythema Of Acral Regions
Erythema OMIM:227000
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Recessive X-Linked Ichthyosis
Dry skin, Attention deficit hyperactivity disorder, Ichthyosis, Hyperkeratosis ORPHA:461
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Palmar hyperkeratosis, Hyperkeratosis, Skin fragility with non-scarring blistering, Pla... ORPHA:79399
Dermatitis Herpetiformis
Eczema, Pruritus, Edema, Erythema, Urticaria, Skin vesicle ORPHA:1656
Bullous Impetigo
Erythema, Pustule, Recurrent bacterial skin infections ORPHA:36237
Costello Syndrome
Failure to thrive in infancy, Acanthosis nigricans, Polyhydramnios, Lack of skin elasticity, Hype... ORPHA:3071
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Leri Pleonosteosis
Gait disturbance, Thickened skin, Lack of skin elasticity ORPHA:2900
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss, Erythema, Urticaria ORPHA:703
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod... OMIM:242100
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Protoporphyria, Erythropoietic, 1
Eczema, Pruritus, Edema, Erythema OMIM:177000
Sydenham Chorea
Unsteady gait, Erythema ORPHA:306731
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Transgrediens Et Progrediens Palmoplantar Keratoderma
Thickened skin, Nonepidermolytic palmoplantar hyperkeratosis, Recurrent bacterial skin infections... ORPHA:495
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Failure to thrive, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:89838
Classic Phenylketonuria
Attention deficit hyperactivity disorder, Eczema, Lack of skin elasticity ORPHA:79254
Bazex Syndrome
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, S... ORPHA:166113
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... ORPHA:79395
Baralle-Macken Syndrome
Dystonia, Acanthosis nigricans, Striae distensae, Inability to walk, Obesity OMIM:619255
Diarrhea 2, With Microvillus Atrophy
Death in infancy, Dehydration OMIM:251850
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin OMIM:614457
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration, Lethargy ORPHA:28
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Netherton Syndrome
Eczema, Acanthosis nigricans, Erythroderma, Urticaria, Congenital nonbullous ichthyosiform erythr... ORPHA:634
Familial Cold Autoinflammatory Syndrome 3
Angioedema, Pruritus, Cold urticaria, Erythema, Dermatographic urticaria OMIM:614468
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Telangiectasia, Cutaneous photosensitivity, Palmoplantar keratosis with erythema and scale, Eryth... ORPHA:158673
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Erythema, Ichthyosis OMIM:609313
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dysphagia, Dehydration OMIM:618958
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hyperextensible skin, Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer ORPHA:542592
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Stiff Skin Syndrome
Thickened skin, Lack of skin elasticity ORPHA:2833
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Erythema, Pruritus OMIM:254400
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis OMIM:104100
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenit... OMIM:612281
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Erythema, Scaling skin, C... ORPHA:79481
Peeling Skin Syndrome 1
Scaling skin, Pruritus, Erythema OMIM:270300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Lack of skin elasticity, Scleroderma OMIM:615381
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Failure to thrive, Ataxia, Scaling skin, Hyperkeratosis, Dry skin OMIM:609180
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dystonia, Dehydration ORPHA:289504
Harlequin Ichthyosis
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma ORPHA:457
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... ORPHA:79147
Pseudoxanthoma Elasticum
Excessive wrinkled skin, Pruritus, Telangiectasia of the skin, Acne, Striae distensae, Lack of sk... ORPHA:758
Hyperchlorhidrosis, Isolated
Failure to thrive, Hypernatremic dehydration, Dehydration OMIM:143860
Ehlers-Danlos Syndrome, Classic Type, 2
Soft, doughy skin, Fragile skin, Hyperextensible skin, Soft skin, Bruising susceptibility OMIM:130010
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema, Dry skin OMIM:308800
Transient Neonatal Diabetes Mellitus
Failure to thrive, Dehydration, Small for gestational age ORPHA:99886
Congenital Lethal Erythroderma
Death in infancy, Failure to thrive, Urticaria, Ichthyosis, Dry skin, Congenital exfoliative eryt... ORPHA:1954
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Snakebite Envenomation
Ecchymosis, Pseudobulbar paralysis, Angioedema, Edema, Erythema, Neuromuscular dysphagia ORPHA:449285
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Premature skin wrinkling, Unsteady gait, Attention deficit hyperactivity d... ORPHA:1942
Psoriasis 2
Scaling skin, Psoriasiform dermatitis, Hyperkeratosis, Parakeratosis OMIM:602723
Ehlers-Danlos Syndrome, Hypermobility Type
Hyperextensible skin, Soft skin, Striae distensae OMIM:130020
Excessive wrinkled skin, Failure to thrive, Small for gestational age, Jaundice ORPHA:79333
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Pustule, Perianal erythema, Failure to thrive, Perioral erythema OMIM:614328
Werner Syndrome
Slender build, Telangiectasia of the skin, Subcutaneous calcification, Prematurely aged appearanc... ORPHA:902
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Netherton Syndrome
Erythroderma, Angioedema, Failure to thrive, Hypernatremic dehydration, Parakeratosis, Urticaria,... OMIM:256500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Failure to thrive, Ichthyosis, Dehydration, Jaundice OMIM:208085
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus ORPHA:505
Complex Regional Pain Syndrome
Dry skin, Edema of the upper limbs, Pedal edema, Erythema ORPHA:83452
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin ORPHA:90368
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Erythema, Reduced subcutan... ORPHA:90156
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Erythema ORPHA:79099
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Dehydration, Lethargy OMIM:143880
Craniofaciofrontodigital Syndrome
Cutis laxa, Pericardial effusion, Palmoplantar cutis laxa, Edema, Lower eyelid edema, Polyhydramn... ORPHA:363705
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Erythema, Skin rash, Chronic mucocutaneous candidiasis OMIM:147060
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis, Unsteady ... ORPHA:2269
Ichthyosis Prematurity Syndrome
Erythroderma, Pruritus, Dermatographic urticaria, Polyhydramnios, Follicular hyperkeratosis, Gene... OMIM:608649
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin OMIM:607936
Psoriasis 14, Pustular
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis OMIM:614204
Self-Improving Collodion Baby
Ichthyosis ORPHA:281122
Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin, Skin ulcer ORPHA:2500
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Dystonia, Dehydration, Lethargy ORPHA:79312
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa OMIM:616603
Polyarteritis Nodosa
Weight loss, Cutis marmorata, Erythema, Skin ulcer ORPHA:767
Kcnq2-Related Epileptic Encephalopathy
Dystonia, Inability to walk, Cerebral edema, Facial erythema, Pallor ORPHA:439218
Noonan Syndrome 8
Eczema, Palmoplantar cutis laxa, Failure to thrive, Polyhydramnios, Large for gestational age, Hy... OMIM:615355
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Prolidase Deficiency
Cutaneous photosensitivity, Pruritus, Erythema, Palmoplantar keratoderma, Hyperkeratosis, Dry ski... ORPHA:742
Meige Disease
Lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacterial skin infections, Cobb... ORPHA:90186
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Bruising susceptibility, Hyperextensible skin, Petechiae OMIM:225310
Rare Cutaneous Lupus Erythematosus
Deep dermal perivascular inflammatory infiltrate, Pustule, Cutaneous photosensitivity, Psoriasifo... ORPHA:535
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance, Slender build, Small for gestational age, Failure to thrive ORPHA:50811
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... ORPHA:2199
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Bruising susceptibility, Hyperextensible skin ORPHA:300179
Beta-Ketothiolase Deficiency
Weight loss, Edema, Ataxia, Oral aversion, Pallor, Dehydration ORPHA:134
Pituitary Adenoma 4, Acth-Secreting
Ecchymosis, Edema, Striae distensae, Abdominal obesity, Purpura, Facial erythema, Poor wound heal... OMIM:219090
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle ORPHA:254478
Xfe Progeroid Syndrome
Dry skin, Prematurely aged appearance, Cachexia, Ascites OMIM:610965
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Ectodermal Dysplasia/Short Stature Syndrome
Dysphagia, Hyperkeratosis OMIM:616029
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ectodermal dysplasia, P... OMIM:613576
Nodular Non-Suppurative Panniculitis
Weight loss, Edema, Erythema ORPHA:33577
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis OMIM:612379
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Edema, Dehydration ORPHA:103910
Moynahan Syndrome
Cachexia, Hyperkeratosis ORPHA:2574
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Steppage gait, Penetrating foot ulcers, Inability to walk, Poor wound healing, Hy... ORPHA:36386
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... ORPHA:100976
Gaucher Disease, Perinatal Lethal
Dysphagia, Nonimmune hydrops fetalis, Petechiae, Ascites, Neonatal death, Polyhydramnios, Akinesi... OMIM:608013
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Flushing, Re... OMIM:259100
Angioedema, Hereditary, 1
Pharyngeal edema, Intestinal edema, Angioedema, Erythema, Laryngeal edema OMIM:106100
Juvenile Dermatomyositis
Dysphagia, Cutaneous photosensitivity, Pruritus, Weight loss, Erythema, Telangiectasia of the ski... ORPHA:93672
Intellectual Developmental Disorder, Autosomal Dominant 62
Striae distensae OMIM:618793
Ramon Syndrome
Failure to thrive, Telangiectasia of the skin, Hyperkeratosis ORPHA:3019
Chronic Mucocutaneous Candidiasis
Pruritus, Erythema, Skin rash, Hyperkeratosis, Skin ulcer ORPHA:1334
Failure to thrive, Gait disturbance, Dehydration, Polydipsia ORPHA:213
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Palmoplantar keratoderma, Folliculitis, Facial erythema OMIM:612843
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Pustule, Failure to thrive, Erythema, Cutis marmorata, Malar rash, Skin rash, Pus... OMIM:615934
Fixed Drug Eruption
Generalized abnormality of skin, Crusting erythematous dermatitis, Erythema ORPHA:293812
Lipoid Proteinosis
Dystonia, Dysphagia, Pustule, Thickened skin, Acne, Hyperkeratosis ORPHA:530
Darier Disease
Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat... ORPHA:218
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer ORPHA:659
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Short Syndrome
Premature skin wrinkling, Small for gestational age OMIM:269880
8Q22.1 Microdeletion Syndrome
Lack of skin elasticity ORPHA:178303
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Telangiectasia, Telangiectasia of the skin, Hyperkeratosis ORPHA:79279
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Dehydration OMIM:602722
Gait disturbance, Failure to thrive, Telangiectasia of the skin, Prematurely aged appearance, Ata... ORPHA:100
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule ORPHA:48377
Pruritus, Cutaneous photosensitivity, Hyperkeratosis ORPHA:79358
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Redundant skin OMIM:123700
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Dehydration OMIM:251120
Tempi Syndrome
Telangiectasia, Ascites, Facial erythema, Transudative pleural effusion ORPHA:284227
Isovaleric Acidemia
Dehydration, Lethargy OMIM:243500
Sunct Syndrome
Flushing, Palpebral edema, Facial erythema, Facial edema ORPHA:57145
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Cutaneous photosensitivity, Palmar hyperkeratosis, Skin fragility with non... ORPHA:79397
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Dehydration, Lethargy ORPHA:27
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Dehydration, Lethargy OMIM:251000
Dowling-Degos Disease
Hyperkeratotic papule, Pruritus, Acne inversa, Generalized abnormality of skin, Hyperkeratosis, S... ORPHA:79145
Aicardi-Goutieres Syndrome 1
Dystonia, Petechiae, Erythema, Acrocyanosis, Inability to walk, Purpura, Prolonged neonatal jaund... OMIM:225750
Fountain Syndrome
Cutis marmorata, Erythema, Hyperextensible skin, Facial edema ORPHA:3219
Oligohydramnios, Premature skin wrinkling, Truncal ataxia ORPHA:263487
Hyperkeratotic papule, Lymphedema, Vascular skin abnormality, Pruritus, Edema, Hyperparakeratosis... ORPHA:182
Mass Syndrome
Striae distensae OMIM:604308
Odontoonychodermal Dysplasia
Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Plantar hyperkeratosis OMIM:257980
Autosomal Dominant Cerebellar Ataxia
Gait disturbance, Dystonia, Pseudobulbar paralysis, Torticollis, Erythema, Laryngeal dystonia, Ak... ORPHA:99
Immunoglobulin A Vasculitis
Pustule, Angioedema, Vascular skin abnormality, Edema, Erythema, Urticaria, Purpura, Skin rash, S... ORPHA:761
Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Propionic Acidemia
Dystonia, Eczema, Failure to thrive, Dehydration, Lethargy OMIM:606054
Autosomal Agammaglobulinemia
Failure to thrive, Recurrent skin infections, Dehydration, Skin rash ORPHA:33110
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Familial Renal Glucosuria
Dehydration ORPHA:69076
Mandibuloacral Dysplasia With Type A Lipodystrophy
Progeroid facial appearance, Prematurely aged appearance, Lack of skin elasticity ORPHA:90153
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Urticaria, Ataxia, Purpura ORPHA:343
Neu-Laxova Syndrome
Lack of skin elasticity, Ichthyosis, Polyhydramnios ORPHA:2671
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis OMIM:133200
Lymphatic Malformation 4
Lymphedema, Hyperkeratosis OMIM:615907
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Dehydration, Polyphagia ORPHA:95427
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... OMIM:300918
Lichen Planopilaris
Pruritus, Skin ulcer, Hyperkeratosis ORPHA:525
Hennekam-Beemer Syndrome
Failure to thrive, Pruritus, Thickened skin, Erythema, Telangiectasia of the skin, Urticaria, Ski... ORPHA:2135
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Cystic acne, Erythema, Acne inversa OMIM:608068
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Dehydration OMIM:560000
Acrodermatitis Enteropathica
Pustule, Failure to thrive, Weight loss, Erythema, Generalized abnormality of skin, Dry skin, Ski... ORPHA:37
Arthrogryposis Multiplex Congenita 5
Dystonia, Death in infancy, Polyhydramnios, Premature skin wrinkling, Akinesia OMIM:618947
Flynn-Aird Syndrome
Ataxia, Hyperkeratosis OMIM:136300
White Sponge Nevus 2
Edema, Hyperparakeratosis OMIM:615785
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Palmoplantar keratoderma, Hyperkeratosis OMIM:616295
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Failure to thrive in infancy, Pustule, Weight loss, Dehydration ORPHA:171876
Adult-Onset Still Disease
Pruritus, Erythema, Joint swelling, Skin rash ORPHA:829
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Erythroderma, Angioedema, Weight loss, Erythema, Skin rash ORPHA:139402
Olmsted Syndrome 2
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... OMIM:619208
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Dehydration OMIM:610600
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis, Overweight, Abnormal elasticity of skin ORPHA:486815
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Abdominal obesity, Striae distensae OMIM:300354
Mitral Valve Prolapse 1
Striae distensae OMIM:157700
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Cutis laxa, Increased number of skin folds ORPHA:436274
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Dehydration OMIM:264350
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Alternating Hemiplegia Of Childhood
Dystonia, Dysphagia, Failure to thrive, Ataxia, Flushing, Oral-pharyngeal dysphagia, Pallor, Dehy... ORPHA:2131
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypertonic dehydration, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypertonic dehydration, Polydipsia OMIM:304800
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:308050
Enteric Anendocrinosis
Dehydration ORPHA:83620
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Immunodeficiency 23
Eczema, Failure to thrive, Erythema, Vasculitis in the skin, Chronic mucocutaneous candidiasis, A... OMIM:615816
Progeroid Facial Appearance With Hand Anomalies
Progeroid facial appearance, Oligohydramnios, Reduced subcutaneous adipose tissue, Prominent supe... OMIM:602249
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis OMIM:602540
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Proteasome-Associated Autoinflammatory Syndrome 4
Edema, Erythema OMIM:619183
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Pruritus, Dry skin, Cutis laxa OMIM:105250
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Weight loss, Edema, Ataxia, Pallor, Dehydration, Jaundice ORPHA:20
Keratoderma Hereditarium Mutilans
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:494
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration OMIM:177735
Thanatophoric Dysplasia Type 1
Acanthosis nigricans, Excessive wrinkled skin, Polyhydramnios, Increased nuchal translucency, Red... ORPHA:1860
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin, Prematurely aged appearance, Premature graying of hair ORPHA:2617
Radio-Tartaglia Syndrome
Dysphagia, Gait imbalance, Striae distensae, Ataxia, Dry skin, Obesity, Attention deficit hyperac... OMIM:619312
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Renal Hypoplasia
Dehydration, Small for gestational age, Polydipsia ORPHA:93101
Wolcott-Rallison Syndrome
Ascites, Decreased body weight, Dehydration, Difficulty walking, Jaundice ORPHA:1667
Toxic Epidermal Necrolysis
Dysphagia, Acantholysis, Polydipsia, Weight loss, Erythema, Skin ulcer ORPHA:537
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Eczema ORPHA:3051
Xeroderma Pigmentosum
Telangiectasia, Cutaneous photosensitivity, Failure to thrive, Thickened skin, Erythema, Telangie... ORPHA:910
Progeroid Syndrome, Petty Type
Cutis laxa, Failure to thrive, Reduced subcutaneous adipose tissue, Prematurely aged appearance, ... ORPHA:2963
Osteootohepatoenteric Syndrome
Failure to thrive, Pruritus, Weight loss, Prolonged neonatal jaundice, Dehydration OMIM:619377
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Dehydration ORPHA:556030
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Familial Cervical Artery Dissection
Striae distensae ORPHA:36382
Maxillonasal Dysplasia
Striae distensae ORPHA:1248
Rheumatic Fever
Gait disturbance, Pallor, Erythema ORPHA:3099
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Peau d'orange, Failure to thrive, Hyperkeratosis, Dry skin OMIM:614576
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Xerostomia, Erythema, Telangiectasia of the skin, Urticaria, Ichthyosis, Palmopl... ORPHA:2907
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss, Dehydration ORPHA:35710
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Dehydration, Lethargy OMIM:251110
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Atypical Werner Syndrome
Progeroid facial appearance, Failure to thrive, Telangiectasia of the skin, Subcutaneous calcific... ORPHA:79474
Weill-Marchesani Syndrome 2
Thickened skin, Lack of skin elasticity, Striae distensae OMIM:608328
Leopard Syndrome 3
Dry skin, Epidermal hyperkeratosis, Hyperkeratosis OMIM:613707
Ifap Syndrome 2
Perioral erythema, Ichthyosis follicularis OMIM:619016
Spinocerebellar Ataxia 34
Ataxia, Dysdiadochokinesis, Hyperkeratosis, Limb ataxia, Gait ataxia OMIM:133190
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Dehydration, Lethargy OMIM:251100
Fg Syndrome Type 1
Facial wrinkling, Attention deficit hyperactivity disorder, Slender build, Broad-based gait ORPHA:93932
Microscopic Polyangiitis
Erythema, Subcutaneous hemorrhage, Cutis marmorata, Skin rash, Skin ulcer ORPHA:727
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa, Ascites, Jaundice OMIM:301045
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, Recurrent... ORPHA:79396
Erythema nodosum, Cutaneous photosensitivity, Petechiae, Pruritus, Erythema, Facial edema, Maculo... ORPHA:324625
Fontaine Progeroid Syndrome
Death in infancy, Small for gestational age, Failure to thrive, Neonatal death, Reduced subcutane... OMIM:612289
Corneodermatoosseous Syndrome
Thickened skin, Erythema, Palmoplantar keratoderma ORPHA:3194
Milroy Disease
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema ORPHA:79452
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Bruising susceptibility, Soft skin, Hyperextensible skin, Poor wound healing OMIM:130060
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Geleophysic Dysplasia 1
Thickened skin, Lack of skin elasticity OMIM:231050
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Cutaneous photosensitivity, Urticaria, Prematurely aged appearance, Ataxia, Skin rash, ... ORPHA:220295
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Excessive wrinkled skin, Palmoplantar keratoderma, Ichthyosis, Hype... ORPHA:1340
Neonatal Inflammatory Skin And Bowel Disease
Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Generalized abnormality of skin, Recurre... ORPHA:294023
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Granddad Syndrome
Progeroid facial appearance, Reduced subcutaneous adipose tissue OMIM:138920
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis OMIM:618625
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Slender build, Small for gestational age, Failure to thrive OMIM:608154
Proteus Syndrome
Hyperkeratosis OMIM:176920
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Lig4 Syndrome
Erythema, Telangiectasia of the skin, Cutaneous photosensitivity ORPHA:99812
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Dehydration, Polyhydramnios OMIM:214700
Incontinentia Pigmenti
Gait disturbance, Erythema, Telangiectasia of the skin, Skin rash, Hyperkeratosis, Attention defi... ORPHA:464
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Orthokeratosis, Ichthyosis, Dry skin, Jaundice OMIM:607626
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Ichthyosis, Hyperkeratosis ORPHA:281090
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis ORPHA:493
Stevens-Johnson Syndrome
Weight loss, Dysphagia, Erythema, Acantholysis ORPHA:36426
Dehydration, Palmoplantar cutis laxa, Lethargy ORPHA:173
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Cutis laxa, Redundant skin ORPHA:91135
Lmna-Related Cardiocutaneous Progeria Syndrome
Scleroderma, Premature skin wrinkling, Premature graying of hair ORPHA:363618
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hidrotic ectodermal dysplasia, Hyperkeratosis ORPHA:1883
Cutaneous photosensitivity, Pruritus, Edema, Erythema, Telangiectasia of the skin, Weight loss, A... ORPHA:221
Autosomal Dominant Cutis Laxa
Redundant neck skin, Cutis laxa, Increased number of skin folds, Prematurely aged appearance, Der... ORPHA:90348
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Dehydration ORPHA:92050
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Kindler Epidermolysis Bullosa
Dysphagia, Cutaneous photosensitivity, Erythema, Palmoplantar keratoderma, Recurrent skin infecti... ORPHA:2908
Ascites, Weight loss, Erythema, Subcutaneous lipoma, Dehydration, Intermittent jaundice ORPHA:97282
Autosomal Recessive Cutis Laxa Type 1
Lack of skin elasticity, Redundant skin, Cutis laxa ORPHA:90349
Neonatal Lupus Erythematosus
Cutaneous photosensitivity, Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperk... ORPHA:398124
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Cutis laxa, Excessive wrinkled skin, Failure to thrive, Abnormal subcutaneou... ORPHA:357074
Kanzaki Disease
Angiokeratoma corporis diffusum, Hyperkeratosis, Dry skin, Lip telangiectasia, Telangiectasia of ... OMIM:609242
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis, Ectodermal dysplasia OMIM:262020
Ogden Syndrome
Facial wrinkling, Minimal subcutaneous fat, Redundant skin, Cutis laxa OMIM:300855
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Autosomal Recessive Cutis Laxa Type 2A
Athetosis, Dystonia, Excessive wrinkled skin, Progeroid facial appearance, Ataxia, Inability to walk ORPHA:357058
Trichothiodystrophy 1, Photosensitive
Telangiectasia, Erythroderma, Cutaneous photosensitivity, Small for gestational age, Congenital n... OMIM:601675
Sialidosis Type 1
Hyperkeratosis, Gait disturbance, Ataxia, Vascular skin abnormality ORPHA:812
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Pigmented Nodular Adrenocortical Disease, Primary, 2
Bruising susceptibility, Truncal obesity, Striae distensae OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Bruising susceptibility, Truncal obesity, Striae distensae OMIM:610489
Adrenal Hypoplasia, Congenital
Failure to thrive, Dehydration OMIM:300200
Dehydration, Small for gestational age, Polydipsia ORPHA:2260
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Dermal translucency, Cutis laxa OMIM:614438
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Angiokeratoma corporis diffusum, Telangiectasia of the skin, Hyperkeratosis, Lip telangiectasia, ... ORPHA:79280
Urticaria, Failure to thrive in infancy, Dehydration, Purpura ORPHA:810
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Sclerodactyly, Scaling skin, Facial erythema, Poor wound healing, Dry skin ORPHA:1010
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Premature skin wrinkling, Polyhydramnios, Failure to thrive ORPHA:435628
Focal Facial Dermal Dysplasia Type Iii
Prematurely aged appearance, Redundant skin ORPHA:1807
Macs Syndrome
Cutis laxa, Palpebral edema, Hyperextensible skin, Ichthyosis, Decreased body weight, Redundant s... OMIM:613075
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Hyperextensible skin, Poor wound healing, Soft skin, Bruising susceptibi... OMIM:130080
Hoyeraal-Hreidarsson Syndrome
Excessive wrinkled skin, Ataxia, Premature graying of hair, Failure to thrive ORPHA:3322
Riddle Syndrome
Telangiectasia, Gait disturbance, Weight loss, Erythema, Conjunctival telangiectasia, Ataxia, Sca... ORPHA:420741
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Prematurely aged appearance, Reduced subcutaneous adipose tissue OMIM:248010
Dysphagia, Pruritus, Thickened skin, Aged leonine appearance, Generalized abnormality of skin, Sc... ORPHA:167635
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Erythema, Facial edema, Facial erythema, Plantar hyperkeratosis, Porok... ORPHA:221016
Hutchinson-Gilford Progeria Syndrome
Weight loss, Shuffling gait, Prominent superficial blood vessels, Generalized abnormality of skin... ORPHA:740
Rothmund-Thomson Syndrome Type 1
Telangiectasia, Small for gestational age, Facial edema, Facial erythema, Attention deficit hyper... ORPHA:221008
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance OMIM:227260
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Pruritus, Fragile skin, Skin vesicle ORPHA:79410
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... OMIM:615508
Acth-Independent Macronodular Adrenal Hyperplasia
Bruising susceptibility, Truncal obesity, Striae distensae OMIM:219080
Chronic Graft Versus Host Disease
Dysphagia, Ascites, Xerostomia, Weight loss, Erythema, Thickened skin, Morphea, Poor wound healin... ORPHA:99921
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis ORPHA:38
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Kikuchi-Fujimoto Disease
Pustule, Cutaneous photosensitivity, Pruritus, Weight loss, Erythema, Vasculitis in the skin, Ata... ORPHA:50918
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Failure to thrive OMIM:617388
Wiedemann-Rautenstrauch Syndrome
Dysphagia, Failure to thrive, Reduced subcutaneous adipose tissue, Premature skin wrinkling, Trun... OMIM:264090
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... ORPHA:189
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Cockayne Syndrome
Gait disturbance, Cachexia, Cutaneous photosensitivity, Reduced subcutaneous adipose tissue, Prog... ORPHA:191
Nephrogenic Diabetes Insipidus
Failure to thrive, Hypernatremic dehydration, Polydipsia, Polyhydramnios ORPHA:223
Campomelia, Cumming Type
Death in infancy, Prematurely aged appearance, Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Dorsocervical fat pad, Acne, Increased body weight, Striae distensae, Abdominal obesity, Plethora... ORPHA:189427
Hypohidrotic Ectodermal Dysplasia
Eczema, Xerostomia, Failure to thrive, Hyperkeratosis, Dry skin ORPHA:238468
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Parakeratosis OMIM:242300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Primary Pigmented Nodular Adrenocortical Disease
Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribution, Acne, Increased body weight... ORPHA:189439
Popov-Chang syndrome
Dry skin, Failure to thrive, Hyperkeratosis OMIM:618428
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Palmoplantar cutis laxa, Excessive wrinkled skin, Follicular hyperkeratosis, Hyperextensible skin... OMIM:225400
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Acquired Partial Lipodystrophy
Progeroid facial appearance ORPHA:79087
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Hyperkeratosis OMIM:615279
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Jaundice, Ataxia, Dehydration, Hydrops fetalis, Lethargy ORPHA:79282
Laron Syndrome
Prematurely aged appearance, Truncal obesity ORPHA:633
De Barsy Syndrome
Athetosis, Cutis laxa, Excessive wrinkled skin, Progeroid facial appearance, Failure to thrive, P... ORPHA:2962
Incontinentia Pigmenti
Pallor, Erythema, Hyperkeratosis OMIM:308300
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis, Telangiectasia of extensor surfaces, Facial telangiectasia in butterfly... OMIM:137940
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Ectodermal dysplasia, Follicular hyperkeratosis, Oligohydramnios, Scaling skin, Dry... OMIM:308205
Short Syndrome
Excessive wrinkled skin, Weight loss ORPHA:3163
Cushing Disease
Ecchymosis, Dorsocervical fat pad, Acne, Increased body weight, Striae distensae, Truncal obesity... ORPHA:96253
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance ORPHA:1387
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Skin rash, Generalized hyperkerato... ORPHA:92
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle OMIM:613102
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Gait disturbance, Dysphagia, Progeroid facial appearance, Truncal ataxia, Unsteady gait, Limb ata... ORPHA:412057
Infantile Nephropathic Cystinosis
Failure to thrive, Dehydration, Polydipsia ORPHA:411629
Trichothiodystrophy 5, Nonphotosensitive
Progeroid facial appearance, Cutis marmorata, Cutaneous photosensitivity, Broad-based gait OMIM:300953
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Lysosomal Acid Lipase Deficiency
Cachexia, Ascites, Failure to thrive, Pruritus, Weight loss, Dehydration, Jaundice ORPHA:275761
Localized Scleroderma
Thickened skin, Erythema ORPHA:90289
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutis marmorata, Failure to thrive in infancy, Hyperkeratosis OMIM:301220
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Pustule, Skin rash, Hyperkeratosis, Joint swelling OMIM:612852
Pearson Syndrome
Dysphagia, Cutaneous photosensitivity, Small for gestational age, Corneal stromal edema, Ataxia, ... ORPHA:699
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Truncal obesity, Cutis laxa, Broad-based gait, Polyphagia ORPHA:397941
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Eczema, Failure to thrive, Polyhydramnios, Large for gestational age, Hyperactivity, Ichthyosis, ... OMIM:607721
Amyloidosis, Finnish Type
Cutis laxa OMIM:105120
Behcet Syndrome
Erythema, Erythema nodosum OMIM:109650
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Pruritus, Failure to thrive, Palmoplantar keratoderma, Follicular hyperkeratosis, Re... ORPHA:158668
Chime Syndrome
Erythema, Skin ulcer, Ichthyosis, Hyperkeratosis ORPHA:3474
Failure to thrive, Gait disturbance, Erythema, Ataxia ORPHA:550
Pyruvate Carboxylase Deficiency
Dystonia, Failure to thrive, Ataxia, Tip-toe gait, Dehydration ORPHA:3008
Wiedemann-Rautenstrauch Syndrome
Acanthosis nigricans, Progeroid facial appearance, Failure to thrive, Slender build, Reduced subc... ORPHA:3455
Rafiq Syndrome
Ataxia, Obesity, Cutis laxa, Truncal obesity OMIM:614202
Loeys-Dietz Syndrome 4
Torticollis, Bruising susceptibility, Hyperextensible skin, Striae distensae OMIM:614816
Opitz-Kaveggia Syndrome
Facial wrinkling, Attention deficit hyperactivity disorder OMIM:305450
Alacrima, Achalasia, And Mental Retardation Syndrome
Gait disturbance, Dysphagia, Hyperkeratosis OMIM:615510
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erythema, Erysipelas, Skin rash, Periorbital edema, Bruising susceptibility ORPHA:32960
Warburg-Cinotti Syndrome
Follicular hyperkeratosis, Erythema, Joint swelling, Poor wound healing OMIM:618175
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Progeroid facial appearance, Cutis laxa, Hyperextensible skin ORPHA:75496
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Weight loss, Dehydration ORPHA:99885
Familial Mediterranean Fever
Ascites, Erythema, Skin rash, Pedal edema, Erysipelas ORPHA:342
Menkes Disease
Cutis laxa, Death in childhood OMIM:309400
Acrocyanosis, Generalized hyperkeratosis, Failure to thrive, Vascular skin abnormality ORPHA:349
Ascites, Necrolytic migratory erythema, Pruritus, Weight loss, Subcutaneous lipoma, Skin rash, In... ORPHA:97280
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:602400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Dehydration ORPHA:90791
Distal Renal Tubular Acidosis
Failure to thrive, Dehydration, Polydipsia ORPHA:18
Proteasome-Associated Autoinflammatory Syndrome 1
Acanthosis nigricans, Progeroid facial appearance, Failure to thrive, Erythema, Death in adolesce... OMIM:256040
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Noonan Syndrome 10
Palmoplantar cutis laxa, Increased nuchal translucency, Hyperextensible skin, Hyperkeratosis, Ple... OMIM:616564
Neuroleptic Malignant Syndrome
Dysphagia, Oculogyric crisis, Dehydration ORPHA:94093
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Hyperkeratosis ORPHA:1806
Agel Amyloidosis
Cutis laxa, Xerostomia, Pruritus, Dermatological manifestations of systemic disorders, Edema, Ata... ORPHA:85448
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue, Hyperextensible skin ORPHA:1901
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Bruising susceptibility, Soft skin, Hyperextensible skin OMIM:225320
Kid Syndrome
Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess formation, Progeroid facial ap... ORPHA:477
Werner Syndrome
Progeroid facial appearance, Scleroderma, Subcutaneous calcification OMIM:277700
Blau Syndrome
Xerostomia, Skin ulcer, Erythema, Skin rash, Ichthyosis, Dry skin, Joint swelling, Erythema nodosum ORPHA:90340
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Decreased body weight, Cutis laxa, Hyperextensible skin OMIM:615349
Noonan Syndrome 2
Palmoplantar cutis laxa, Polyhydramnios, Increased nuchal translucency, Hyperextensible skin, Hyp... OMIM:605275
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Progeroid facial appearance, Prematur... ORPHA:2959
Ullrich Congenital Muscular Dystrophy 1
Failure to thrive, Follicular hyperkeratosis, Slender build, Torticollis OMIM:254090
Cystinosis, Nephropathic
Dysphagia, Failure to thrive in infancy, Polydipsia, Oral-pharyngeal dysphagia, Dehydration OMIM:219800
Juvenile Nephropathic Cystinosis
Failure to thrive, Dehydration, Polydipsia ORPHA:411634
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin, Hyperextensible skin ORPHA:2078
Donohue Syndrome
Acanthosis nigricans, Severe failure to thrive, Hyperkeratosis OMIM:246200
Adrenocortical Carcinoma
Weight loss, Increased body weight, Striae distensae ORPHA:1501
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa OMIM:614100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Atopic dermatitis, Dysphagia, Cutis laxa, Failure to thrive, Erythema, Reduced sub... OMIM:619503
Recurrent bact