Gene Summary

Name:
serine peptidase inhibitor, Kazal type 5
Synonyms:
2310065D10Rik,  LEKT1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
absent vibrissae Spink5em1(IMPC)J HET Early adult 2.65×10-05
preweaning lethality, complete penetrance Spink5em1(IMPC)J HOM   Early adult 0.00

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Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Human diseases caused by Spink5 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 Spink5 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Spink5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis With Erythrokeratoderma
Scaling skin, Parakeratosis, Epidermal acanthosis, Leukonychia, Diffuse palmoplantar hyperkeratos... OMIM:620507
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Hypotrichosis Simplex Of The Scalp
Scaling skin, Slow-growing scalp hair, Parakeratosis, Epidermal acanthosis, Alopecia of scalp, Hy... ORPHA:90368
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht... OMIM:617571
Ulerythema Ophryogenesis
Facial erythema, Contact dermatitis, Miscarriage, Dry skin, Sparse lateral eyebrow, Acne, Hyperke... ORPHA:3406
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Epidermal acanthosis, Nail dystrophy, Onychogryposis, Generalized ichthyosis, Hype... ORPHA:79395
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Pruritus on foot, Erythematous papule, Palmar pruritus, Eczematoi... ORPHA:64745
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Peeling Skin Syndrome 5
Scaling skin, Epidermal acanthosis OMIM:617115
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Abnormality of the nail, ... OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Abnormal hair morphology, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Bazex Syndrome
Scaling skin, Parakeratosis, Nail dystrophy, Yellow nails, Acanthosis nigricans, Hyperkeratosis, ... ORPHA:166113
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Sparse hair, Pili torti, Erythema, Foll... OMIM:607903
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis, Abnormality of the nail, Abnormal hair morphology OMIM:612908
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Parakeratosis, Nail dystrophy, Ichthyosis, Hyperkeratosis, Woolly hair, Fragile nail... OMIM:615821
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Abnormal hair m... OMIM:618531
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Ichthyosis Hystrix, Curth-Macklin Type
Palmoplantar keratoderma, Hyperkeratotic papule, Scaling skin, Fragile skin OMIM:146590
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Porokeratosi... ORPHA:737
Bathing Suit Ichthyosis
Scaling skin, Parakeratosis, Nail dystrophy, Epidermal acanthosis, Ichthyosis, Thickened skin, Co... ORPHA:100976
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplan... OMIM:617526
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmopl... OMIM:212360
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
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de... ORPHA:530838
Vulvovaginal Gingival Syndrome
Parakeratosis, Epidermal acanthosis, Erythema, Ridged nail, Pruritus ORPHA:83453
Darier Disease
Hypermelanotic macule, Macule, Acrokeratosis, Palmoplantar keratoderma, Skin vesicle, Plantar pit... ORPHA:218
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse... OMIM:619208
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Epidermal acanthosis, Parakeratosis, Nail dystrophy, Ichthyosis, Congenital ichth... OMIM:242300
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural ar... OMIM:601952
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Hypertrichosis, Erythema OMIM:617524
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Epidermal acanthosis, Generalized hyperkeratosis, Alopecia of scalp, Absent pubic h... ORPHA:2269
Peeling Skin Syndrome 3
White scaling skin, Erythema OMIM:616265
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Mal De Meleda
Epidermal acanthosis, Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepi... ORPHA:87503
Anonychia With Flexural Pigmentation
Macular telangiectasia, Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, F... ORPHA:69125
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin OMIM:105250
Vohwinkel Syndrome, Variant Form
Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H... OMIM:604117
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis ORPHA:2337
Olmsted Syndrome, X-Linked
Parakeratosis, Subungual hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Alopecia totalis, ... OMIM:300918
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratoderma, Recurrent skin infectio... ORPHA:454
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin, Epidermal acanthosis OMIM:615028
Atrophoderma Vermiculata
Erythema, Abnormal epidermal morphology, Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Classic Mycosis Fungoides
Skin ulcer, Abnormality of the nail, Hyperkeratosis, Skin rash, Dry skin, Eczematoid dermatitis, ... ORPHA:2584
Peeling Skin Syndrome 6
Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus OMIM:618084
Peeling Skin Syndrome 4
Scaling skin, Epidermal acanthosis, Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar kera... OMIM:607936
Psoriasis 2
Scaling skin, Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Psoriasiform dermatitis OMIM:602723
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Skin erosion, Erythema ORPHA:2841
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Prurit... ORPHA:505
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle, Erythema migrans, Pruritus ORPHA:158681
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized skin lesion, Milia, Erythematous papule, Atrophic scars, Atypical scarring of skin, Ski... ORPHA:79410
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Parakeratosis, Epidermal acanthosis, Generalized ichthyosis, Hyperkeratosis, Erythr... OMIM:612281
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Ichthyosis Hystrix Of Curth-Macklin
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin i... ORPHA:79503
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin, Epidermal acanthosis ORPHA:464318
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen... OMIM:620150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Olmsted Syndrome 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ... OMIM:614594
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Sk... ORPHA:317
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Erythroderma, White scaling skin, Congenital nonbullous icht... OMIM:604777
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Perifolliculitis, Inflammatory abnormality of the skin, Pruritus, ... ORPHA:79147
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Epidermal acanthosis, Leukonychia, Hyperkeratosis, Dry skin, Fragile skin, Onycholy... OMIM:616295
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Pyoderma gangrenosum OMIM:619986
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Ort... OMIM:617525
Pemphigus Foliaceus
Scaling skin, Annular cutaneous lesion, Psoriasiform dermatitis, Pustule, Pruritus, Serpiginous c... ORPHA:79481
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy, Pruritus OMIM:131850
Dowling-Degos Disease
Hypermelanotic macule, Palmar pits, Erythematous papule, Hyperkeratosis, Hypopigmented macule, Di... ORPHA:79145
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Alopecia of scalp, Dystrophic fingernails, Nail dystrophy, Absent eyelashes, Ectode... OMIM:604536
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Ichthyosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, ... OMIM:620148
Porokeratosis 3, Multiple Types
Parakeratosis, Nail dystrophy, Porokeratosis OMIM:175900
White Sponge Nevus 2
Edema, Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Ichthyosis With Confetti
Scaling skin, Ichthyosis, Hypoplastic nipples, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:609165
Wells Syndrome
Edema, Skin vesicle, Pruritus ORPHA:901
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Palmoplantar erythema, Sparse eyebrow, Sparse hair, Pa... OMIM:104100
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy, Epidermal acanthosis, Pustule, Psoriasiform dermatitis, Erythema OMIM:614204
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Epidermolytic Hyperkeratosis 1
Scaling skin, Epidermal acanthosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar h... OMIM:113800
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Pustule, Recurrent skin in... ORPHA:346
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Palmar pruritus, Atopic dermatitis, Orth... ORPHA:498359
Congenital Panfollicular Nevus
Skin nodule, Verrucous papule, Hyperkeratosis ORPHA:139414
Erosive Pustular Dermatosis Of The Scalp
Pustule, Abnormal hair morphology, Erythema, Scarring alopecia of scalp ORPHA:222
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Nail dystrophy, Death in early adulthood, Death in adolescence, Woolly... OMIM:605676
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis, Generalized hirsutism ORPHA:2812
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in... ORPHA:284426
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Pruritus ORPHA:254478
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperkeratosis, Dystrophic toenail, Absent toenail, Abnormal fingernail morphology, ... ORPHA:89838
Netherton Syndrome
Parakeratosis, Brittle hair, Sparse scalp hair, Eczematoid dermatitis, Angioedema, Urticaria, Bri... OMIM:256500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Nail dystrophy, Hyperkeratosis, Skin fragility with non-scarring blistering, Pruritus, Palmar hyp... ORPHA:79399
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Jaundice, Epidermal acanthosis, Ichthyosis, Thick hair, Dry skin, Sparse eyelashes... OMIM:607626
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Lack of skin elasticity, Erythema ORPHA:281127
Idiopathic Localized Lipodystrophy
Scaling skin, Morphea, Erythema, Reduced subcutaneous adipose tissue, Inflammatory abnormality of... ORPHA:90158
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema OMIM:613943
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dystrophic fingernails, Facial erythema, Onychogryposis, Diffuse palmoplantar hyperkeratosis, Dys... ORPHA:495
Pemphigoid Gestationis
Skin vesicle, Pruritus ORPHA:63275
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Mal De Meleda
Perioral erythema, Fragile nails, Congenital symmetrical palmoplantar keratosis, Ichthyosis OMIM:248300
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Brittle hair, Cutaneous photosensitivity, Tiger tail banding, Congenital nonbullous i... OMIM:618546
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Thin nail, Abnormal hair morphology, Small nail, Congenital ichthyosiform e... OMIM:242100
Iga Pemphigus
Annular cutaneous lesion, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Acantholy... ORPHA:555905
Schopf-Schulz-Passarge Syndrome
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Ectodermal dyspl... OMIM:224750
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Nail dystrophy, Ectodermal dysplasia, Palmoplantar keratoder... OMIM:615225
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Ichthyosis, Death in childhood, Hyperkeratosis, Dry skin, Congenital nonbullous ich... OMIM:614457
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair OMIM:300652
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dystrophic fingernails, Facial erythema, Nail dystrophy, Scarring alopecia of scalp, Dry skin, Fo... OMIM:308800
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dystrophic fingernails, Recurrent loss of toenails and fingernails, Cutaneous photosensitivity, D... ORPHA:158673
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Skin rash ORPHA:90000
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Cutaneous Mastocytoma
Scaling skin, Maculopapular exanthema, Telangiectasia macularis eruptiva perstans, Peau d'orange,... ORPHA:79455
Acral Peeling Skin Syndrome
Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Erythema ORPHA:263534
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:173200
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Congenital bull... ORPHA:312
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1... OMIM:247100
Chilblain Lupus
Skin ulcer, Malar rash, Hyperkeratosis, Skin rash, Discoid lupus rash, Cutis marmorata, Inflammat... ORPHA:90280
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Thickened skin, Generalized hypotrichosis, Sparse axillary hair, Spar... ORPHA:189
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Alopecia of scalp, Polyhydramnios, Generalized ichthyosis, Erythroderma, De... OMIM:608649
Elastosis Perforans Serpiginosa
Cutis laxa, Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis ORPHA:79148
Superficial Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Acantholysis, Edema, Erythema ORPHA:455
Woolly Hair-Skin Fragility Syndrome
Palmoplantar keratoderma, Acantholysis, Woolly hair, Fragile skin OMIM:620415
Cole Disease
Epidermal acanthosis, Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Hypergra... OMIM:615522
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Dry skin, ... OMIM:618527
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Hypergranulosis, Abnormal fingernail m... ORPHA:2199
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... OMIM:613736
Odontoonychodermal Dysplasia
Nail dysplasia, Epidermal acanthosis, Ridged nail, Hypergranulosis, Fine hair, Plantar hyperkerat... OMIM:257980
Dowling-Degos Disease 4
Epidermal acanthosis, Pruritus, Hypergranulosis OMIM:615696
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Nail dystrophy, Yellow nails, Orthokeratotic hyperkeratosis, Onycholysis, S... OMIM:148700
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Scarring alopecia of scalp, Hyperkeratosis, Absent eyelashes, Erythroderma, Cobblesto... OMIM:602540
Acrokeratosis Verruciformis Of Hopf
Nail dystrophy, Leukonychia, Epidermal acanthosis, Hyperkeratosis, Anonychia, Punctate palmoplant... ORPHA:79151
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus ORPHA:409
Lichen Planopilaris
Skin ulcer, Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Pruritus, Alopecia ORPHA:525
Dermatitis Herpetiformis
Eczematoid dermatitis, Macule, Pruritus, Edema, Skin vesicle, Erythema ORPHA:1656
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis, Dry skin, Urticaria, Erythema ORPHA:816
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Prolidase Deficiency
Skin ulcer, Cutaneous photosensitivity, Hyperkeratosis, Hirsutism, Dry skin, White forelock, Abno... ORPHA:742
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema, Pedal edema OMIM:615907
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Death in infancy OMIM:251850
Dermatitis, Atopic
Facial erythema, Ichthyosis, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Recurrent skin i... OMIM:603165
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Scaling skin, Absent hair, Nail dystrophy, Facial erythema, Trichorrhexis nodosa, Ridged nail, Ab... ORPHA:1010
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Folliculitis, Sparse... OMIM:612843
Lamellar Ichthyosis
Ichthyosis, Abnormality of the nail, Hyperkeratosis, Dehydration, Dry skin, Lack of skin elastici... ORPHA:313
Acrokeratosis Verruciformis
Epidermal acanthosis, Ridged nail, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkera... OMIM:101900
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Hyperkeratosis, Dry skin, Death in infancy, Erythroderma OMIM:609180
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Alopecia of scalp, Nail dystrophy, Dry skin, Conjunctival telangiectasia, Palmoplan... OMIM:618373
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology, Pruritus ORPHA:89843
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Cutaneous photosensitivity ORPHA:33314
Aicardi-Goutieres Syndrome 5
Scaling skin, Thrombocytopenia, Dry skin OMIM:612952
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Tylosis With Esophageal Cancer
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis OMIM:148500
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebrow, Sparse hair OMIM:618625
Peeling Skin Syndrome 1
Scaling skin, Eosinophilia OMIM:270300
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Facial edema, Predominantly dermal neutrophilic infiltrate, Pustule, Skin ... ORPHA:293173
Hydroa Vacciniforme
Hydroa vacciniforme, Cutaneous photosensitivity, Malar rash, Superficial dermal perivascular infl... ORPHA:330058
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Cutaneous photosensitivity, Malar rash, Hyperkeratosis, Discoid lupus rash, ... ORPHA:163525
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerato... OMIM:606545
Centrifugal Lipodystrophy
Scaling skin, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, Inflammatory ... ORPHA:90156
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Sparse eyelas... OMIM:602400
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Pruritus, Plantar hyperkeratosis, Alopecia OMIM:616487
Harlequin Ichthyosis
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Vibratory Urticaria
Urticaria, Facial erythema, Flushing, Dermatographic urticaria OMIM:125630
Monilethrix
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Lymphatic Malformation 12
Polyhydramnios, Hyperkeratosis, Lymphedema, Death in adolescence, Neonatal death, Nonimmune hydro... OMIM:620014
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Prominent superficial blood vessels... ORPHA:280779
Hypotrichosis And Recurrent Skin Vesicles
Epidermal acanthosis, Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse ... OMIM:613102
Chronic Mucocutaneous Candidiasis
Skin ulcer, Erythema, Abnormality of the nail, Hyperkeratosis, Skin rash, Broad nail, Abnormal fi... ORPHA:1334
Chromomycosis
Hyperparakeratosis, Vascular skin abnormality, Predominantly lower limb lymphedema, Hyperkeratosi... ORPHA:182
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Congenital bullous ichthyosiform erythroderma, Sparse hair, Palmoplantar ke... OMIM:613576
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Hyperkeratosis, Inflammatory abnormality of the skin, Telangiectasia ORPHA:454831
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Cutaneous photosensitivity, Skin fragility with non-scarring blis... ORPHA:79397
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis, Ectodermal dysplasia, Nail dystrophy OMIM:129200
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Circumungual hyperke... ORPHA:2200
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Keratoderma Hereditarium Mutilans
Ichthyosis, Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmo... ORPHA:494
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Neonatal Lupus Erythematosus
Parakeratosis, Cutaneous photosensitivity, Malar rash, Hyperkeratosis, Skin rash, Maculopapular e... ORPHA:398124
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Papule, Pustule, Skin vesicle ORPHA:48104
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Thickened skin, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma... ORPHA:659
Cutaneous Small Vessel Vasculitis
Purpura, Skin rash, Urticaria, Cutis marmorata, Recurrent skin infections, Erythema ORPHA:889
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Polyhydramnios, Dehydration, Papule OMIM:616069
Diffuse Cutaneous Mastocytosis
Scaling skin, Generalized abnormality of skin, Peau d'orange, Thickened skin, Urticaria, Darier's... ORPHA:79456
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin... ORPHA:90159
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Mastocytosis, Cutaneous
Edema, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Palmoplantar Keratoderma, Epidermolytic, 1
Palmar hyperkeratosis, Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplant... OMIM:144200
Monilethrix
Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair ... OMIM:158000
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, Hypergranulosis OMIM:615022
Chronic Hiccup
Dehydration ORPHA:396
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Hyperkeratosis, Sparse scalp hair, Fine hair, Pili torti ORPHA:1573
Keratosis Pilaris Atrophicans
Absent eyelashes, Sparse eyebrow, Erythema OMIM:604093
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Death in infancy OMIM:219095
Hidrotic Ectodermal Dysplasia, Halal Type
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair, Abnormal f... ORPHA:1809
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Parakeratosis, Epidermal acanthosis, Small nail, Hyperkeratosis, Congenital ichthyosi... OMIM:308050
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Maculopapular Cutaneous Mastocytosis
Generalized abnormality of skin, Darier's sign, Pruritus, Flushing, Dermatographic urticaria, Ery... ORPHA:79457
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Nail dystrophy, Fragile skin, Recurrent skin infections, Sparse hair, Palmoplantar ... ORPHA:158668
Chilblain Lupus 1
Skin ulcer OMIM:610448
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Dry skin, Eczematoid dermatitis, Cutis laxa, Hypertrichosis OMIM:612379
Kid Syndrome
Scaling skin, Recurrent cutaneous fungal infections, Epidermal acanthosis, Nail dystrophy, Trichi... ORPHA:477
Pityriasis Rubra Pilaris
Ichthyosis, Erythroderma, Eczematoid dermatitis, Thickened skin, Pustule, Subungual hyperkeratosi... ORPHA:2897
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hyperkeratosis, Dry skin, Death in infancy, Sparse eyelashes, Sparse eyebrow, Inflamm... OMIM:610768
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin, Onycholysis, Abnormal fingernail morphology, Hypoplastic toenails, Fine... ORPHA:1028
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythrode... OMIM:615023
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Ectodermal Dysplasia/Short Stature Syndrome
Nail dystrophy, Epidermal acanthosis, Hyperkeratosis, Anonychia, Palmoplantar keratoderma OMIM:616029
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Ramon Syndrome
Hyperkeratosis, Generalized hirsutism, Telangiectasia of the skin ORPHA:3019
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Hyperkeratosis, Hidrotic ectodermal dysplasia, Sparse hair, Coarse hair ORPHA:1883
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Neonatal death, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis OMIM:609638
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Dermal atrophy, Aplasia/Hypoplasia of the skin, Papule ORPHA:257
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer, Neutropenia, Lymphopenia OMIM:620443
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Eczematoid dermatitis, Sparse l... OMIM:617337
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Urticaria, Acantholysis, Alopecia of scalp ORPHA:704
Complex Regional Pain Syndrome
Abnormality of hair growth, Slow-growing nails, Pedal edema, Dry skin, Edema of the upper limbs, ... ORPHA:83452
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Trichodysplasia, Brittle hair, Absent eyelashes, Ectodermal dysplasia, Generalize... ORPHA:2890
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Psoriasiform lesion, Decreased proportion of CD3-po... ORPHA:169154
Trichothiodystrophy 1, Photosensitive
Trichorrhexis nodosa, Nail dystrophy, Cutaneous photosensitivity, Brittle hair, Small nail, Hyper... OMIM:601675
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Ichthyosis, Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, S... ORPHA:35173
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Coarse hair, Maculopapular exanthema, Breast a... OMIM:308300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Erythroderma, Hypergranulosis, Sparse hair, Palmoplantar keratoderma, Recurrent skin ... OMIM:615508
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Meige Disease
Skin ulcer, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleura... ORPHA:90186
Darier-White Disease
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Reticular Dysgenesis
Skin rash, Skin ulcer, Dehydration ORPHA:33355
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Low posterior hairline, Curly hair, Epidermal hyperkeratosis OMIM:613707
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Necrobiosis Lipoidica
Skin ulcer, Fragile skin, Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema ORPHA:542592
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Epidermal hyperkeratosis, Fragile skin, Cutaneous photosensitivity OMIM:620483
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Hypergranulosis, Orthok... ORPHA:38
Naxos Disease
Epidermal acanthosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly... OMIM:601214
Pachyonychia Congenita 1
Nail dystrophy, Onychogryposis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Idiopathic Trachyonychia
Nail dystrophy, Ichthyosis, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periung... ORPHA:79153
Familial Cold Urticaria
Dehydration, Pruritus, Erythema ORPHA:47045
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin ulcer, Skin rash, Papule, Eczematoid dermatitis, Skin vesicle, Pruritus ORPHA:2314
Erythema Of Acral Regions
Erythema OMIM:227000
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Hyperkeratosis, ... ORPHA:238468
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Keratolytic Winter Erythema
Erythema OMIM:148370
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Nail dysplasia, Nail dystrophy, Ichthyosis follicularis, Periungual erythema, Death... OMIM:308205
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Pyoderma ga... OMIM:150550
Autosomal Erythropoietic Protoporphyria
Erythema, Cutaneous photosensitivity, Eczematoid dermatitis, Edema, Pruritus ORPHA:79278
Neonatal Inflammatory Skin And Bowel Disease
Scaling skin, Generalized abnormality of skin, Slow-growing scalp hair, Chronic monilial nail inf... ORPHA:294023
Dracunculiasis
Recurrent cutaneous abscess formation, Skin ulcer ORPHA:231
Familial Cold Autoinflammatory Syndrome 3
Erythema, Angioedema, Cold urticaria, Dermatographic urticaria, Pruritus OMIM:614468
Noonan Syndrome 8
Polyhydramnios, Hyperkeratosis, Pleural effusion, Eczematoid dermatitis, Curly hair, Palmoplantar... OMIM:615355
Lipoid Proteinosis
Alopecia of scalp, Hyperkeratosis, Thickened skin, Pustule, Acne ORPHA:530
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Lethal Acantholytic Erosive Disorder
Absent hair, Absent eyelashes, Absent fingernail, Fragile skin, Absent eyebrow, Absent toenail, A... ORPHA:158687
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Tongue edema, Angioedema, Pharyngeal edema, Facial edema, Laryngeal edema, Erythema ORPHA:100057
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Erythema, Eczematoid dermatitis OMIM:254400
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Palmoplantar keratoderma, Hyperkeratotic papule, Leukonychia, Palmoplantar hyperkeratosis ORPHA:2698
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Hyperkeratosis, Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Malar rash, Skin rash, Periungual erythema, Pustular rash, Pustule, Cutis marmora... OMIM:615934
Juvenile Hyaline Fibromatosis
Death in infancy, Skin ulcer, Abnormal hair morphology ORPHA:2028
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Telangiectasia of extensor surfaces, Palpebral edema, Absent eyelashes, Lymphedema, Sparse scalp ... OMIM:137940
Sweet Syndrome
Erythematous papule, Predominantly dermal neutrophilic infiltrate, Skin nodule, Pustule, Acne, Sk... ORPHA:3243
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Skin ulcer, Poor wound healing, Penetrating foot ulcers ORPHA:36386
Familial Renal Glucosuria
Dehydration ORPHA:69076
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis, Nail dystrophy, Small nail OMIM:181600
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Protoporphyria, Erythropoietic, 1
Edema, Pruritus, Erythema, Eczematoid dermatitis OMIM:177000
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Dry skin, Eczematoid dermatitis, Sparse eyelashes, Sparse b... OMIM:618535
Ifap Syndrome 2
Nail dystrophy, Ichthyosis follicularis, Perioral erythema, Atrichia, Sparse hair OMIM:619016
Hereditary Acrokeratotic Poikiloderma
Nail dystrophy, Skin ulcer, Dystrophic fingernails, Ichthyosis, Xerostomia, Dystrophic toenail, E... ORPHA:2907
Immunodeficiency 58
Scaling skin, Ichthyosis, Psoriasiform lesion, Cutaneous photosensitivity, Seborrheic dermatitis,... OMIM:618131
Incontinentia Pigmenti
Skin ulcer, Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Hyperkerat... ORPHA:464
Netherton Syndrome
Ichthyosis, Acanthosis nigricans, Skin rash, Dehydration, Eczematoid dermatitis, Congenital nonbu... ORPHA:634
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Costello Syndrome
Polyhydramnios, Acanthosis nigricans, Abnormal hair morphology, Hyperkeratosis, Redundant skin, W... ORPHA:3071
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Redundant skin, Eczematoid dermatitis, Palmoplantar hyperkeratosis, Flushi... OMIM:259100
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Fine hair, Sparse hair, Alopecia ORPHA:1839
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Follicular hyperkeratosis ORPHA:300179
Acrodermatitis Enteropathica
Generalized abnormality of skin, Skin ulcer, Ridged nail, Abnormality of the nail, Dry skin, Abno... ORPHA:37
Recon Progeroid Syndrome
Scaling skin, Progeroid facial appearance, Cutaneous photosensitivity, Hyperconvex thumb nails, H... OMIM:620370
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Polyhydramnios, Aplasia cutis congenita, Neonatal death OMIM:612138
Hennekam-Beemer Syndrome
Papule, Macule, Pruritus, Subcutaneous nodule, Skin vesicle, Erythema ORPHA:2135
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l... OMIM:145250
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Urticaria, Psoriasiform dermatitis, Pruritus ORPHA:703
Milroy Disease
Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, Pedal edema ORPHA:79452
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Mpdu1-Cdg
Scaling skin, Ichthyosis, Eczematoid dermatitis ORPHA:79323
Pachyonychia Congenita
Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Alopecia, Linear arrays of ... ORPHA:2309
Aplasia Cutis Congenita
Skin ulcer, Erythema ORPHA:1114
Sydenham Chorea
Erythema ORPHA:306731
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perioral erythema, Perianal erythema, Pustule, Erythroderma, Paronychia, Onychogryposis OMIM:614328
C1Q Deficiency 2
Facial erythema, Malar rash, Discoid lupus rash, Chilblains, Vasculitis in the skin OMIM:620321
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pyoderma ga... OMIM:604416
Herpes Simplex Virus Stromal Keratitis
Corneal stromal edema, Herpetiform vesicles ORPHA:137599
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Chronic oral candidiasis, Patchy alopecia, Eczematoid dermatitis, Erythroderma, Alo... OMIM:606367
Granulomatous Slack Skin
Cutis laxa, Redundant skin, Erythema ORPHA:33111
Leishmaniasis
Skin ulcer, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Throm... ORPHA:507
Beta-Thalassemia
Skin ulcer, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Pallor, Microcytic anemia ORPHA:848
Poikiloderma With Neutropenia
Nail dystrophy, Hyperkeratosis, Skin rash, Low posterior hairline, Sparse lateral eyebrow, Sparse... OMIM:604173
Enteric Anendocrinosis
Dehydration ORPHA:83620
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Porphyria Cutanea Tarda
Scaling skin, Cutaneous photosensitivity, Hirsutism, Recurrent bacterial skin infections, Fragile... ORPHA:101330
Acrogeria
Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin, Fin... ORPHA:2500
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis OMIM:615735
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Porphyria Variegata
Skin vesicle, Localized skin lesion, Skin erosion, Milia ORPHA:79473
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Chikungunya
Maculopapular exanthema, Pedal edema, Petechiae, Skin rash, Macule, Joint swelling, Pruritus, Ery... ORPHA:324625
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Nail dysplasia, Trichiasis, Nail dystrophy, Ichthyosis, Absent pubic hair, Hyperkeratosis, Recurr... OMIM:148210
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Erythema ORPHA:79099
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Corneodermatoosseous Syndrome
Absent fingernail, Thickened skin, Abnormal fingernail morphology, Palmoplantar keratoderma, Eryt... ORPHA:3194
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Epidermal acanthosis, Seborrheic dermatitis, Superficial dermal perivascular infla... ORPHA:83617
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Nail dystrophy, Abnormal epidermal morphology, Hypergranulosis, Palmoplanta... ORPHA:79501
De Sanctis-Cacchione Syndrome
Parakeratosis, Cutaneous photosensitivity, Telangiectasia OMIM:278800
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized abnormality of skin, Nail dystrophy, Onychogryposis, Fragile skin, Palmoplantar kerat... ORPHA:79396
Isolated Agammaglobulinemia
Skin ulcer, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous abscess... ORPHA:229717
Warty Dyskeratoma
Abnormal fingernail morphology, Acantholysis, Epidermal thickening, Acrokeratosis ORPHA:69745
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Leukonychia, Skin ulcer, Abnormal hair morphology, Chylothorax, Abnormal eyelash mo... ORPHA:2526
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Telangiectasia of the skin, Hyperparakeratosis ORPHA:276280
Restrictive Dermopathy 1
Scaling skin, Stillbirth, Polyhydramnios, Prominent superficial blood vessels, Absent eyelashes, ... OMIM:275210
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Buerger Disease
Skin ulcer ORPHA:36258
Werner Syndrome
Premature graying of hair, Skin ulcer, Prematurely aged appearance, Hyperkeratosis, Miscarriage, ... ORPHA:902
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer ORPHA:743
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Pachyonychia Congenita 3
Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Palmar hyperkeratosis, Chap... OMIM:615726
Pachyonychia Congenita 2
Nail dysplasia, Nail dystrophy, Subungual hyperkeratosis, Sparse scalp hair, Folliculitis, Sparse... OMIM:167210
Dermatomyositis
Facial erythema, Skin ulcer, Erythema, Cutaneous photosensitivity, Abnormality of the nail, Abnor... ORPHA:221
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Arthrogryposis And Ectodermal Dysplasia
Nail dysplasia, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Dry skin, Absent eyebrow, Trich... OMIM:601701
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Central Diabetes Insipidus
Dehydration ORPHA:178029
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Dehydration, Death in adolescence OMIM:560000
Xeroderma Pigmentosum
Cutaneous photosensitivity, Alopecia, Hyperkeratosis, Dry skin, Conjunctival telangiectasia, Thic... ORPHA:910
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Skin ulcer, T lymphocytopenia ORPHA:217390
Chime Syndrome
Skin ulcer, Ichthyosis, Hyperkeratosis, Sparse hair, Fine hair, Erythema ORPHA:3474
Dyskeratosis Congenita
Hypopigmented skin patches, Hypermelanotic macule, Skin ulcer, Aplasia/Hypoplasia of the skin, Ma... ORPHA:1775
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Frontal upsweep of hair, Hyperkeratosis, Cutis marmorata, Broad eyebrow OMIM:301220
Prolidase Deficiency
Skin ulcer, Diffuse telangiectasia, Facial hirsutism, Petechiae, Low posterior hairline, Eczemato... OMIM:170100
Reynolds Syndrome
Generalized abnormality of skin, Jaundice, Skin ulcer, Xerostomia, Skin rash, Ascites, Sclerodact... ORPHA:779
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Juvenile Dermatomyositis
Palpebral edema, Skin ulcer, Cutaneous photosensitivity, Skin rash, Dry skin, Telangiectasia of t... ORPHA:93672
Pituitary Adenoma 4, Acth-Secreting
Purpura, Facial erythema, Hirsutism, Ecchymosis, Edema, Bruising susceptibility, Poor wound heali... OMIM:219090
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum OMIM:616576
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Fixed Drug Eruption
Generalized abnormality of skin, Crusting erythematous dermatitis, Erythema ORPHA:293812
Cerebrooculofacioskeletal Syndrome 1
Death in childhood, Dehydration OMIM:214150
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis, Albinism, Hypopigmentation of hair ORPHA:79431
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Psoriasiform lesion, Pancytopenia, Decreased proportion of class-swi... OMIM:614700
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Erythema, Pyoderma gangrenosum, Cystic acne OMIM:608068
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Immunodeficiency 114, Folate-Responsive
Skin ulcer, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ollier Disease
Skin ulcer, Anemia ORPHA:296
Polyarteritis Nodosa
Cutis marmorata, Skin ulcer, Erythema ORPHA:767
Fountain Syndrome
Synophrys, Cutis marmorata, Thick eyebrow, Facial edema, Erythema ORPHA:3219
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Subcorneal Pustular Dermatosis
Pustule, Pruritus, Erythema ORPHA:48377
Snakebite Envenomation
Angioedema, Ecchymosis, Edema, Erythema ORPHA:449285
Isovaleric Acidemia
Dehydration OMIM:243500
Restrictive Dermopathy
Scaling skin, Generalized hyperkeratosis, Polyhydramnios, Sparse or absent eyelashes, Aplasia/Hyp... ORPHA:1662
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ichthyosis, Oligohydramnios, Dehydration OMIM:208085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Epidermal acanthosis, Hyperkeratosis, Skin rash, Pustule, Joint swelling OMIM:612852
Autosomal Agammaglobulinemia
Recurrent skin infections, Skin rash, Dehydration ORPHA:33110
Cardiofaciocutaneous Syndrome
Dystrophic fingernails, Ichthyosis, Excessive wrinkled skin, Sparse or absent eyelashes, Brittle ... ORPHA:1340
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Immunoglobulin A Vasculitis
Purpura, Skin ulcer, Vascular skin abnormality, Skin rash, Angioedema, Urticaria, Pustule, Edema,... ORPHA:761
Bacterial Toxic-Shock Syndrome
Scaling skin, Increased circulating myelocyte count, Thrombocytopenia, Ecchymosis, Increased circ... ORPHA:36234
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Pyoderma gangrenosum, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymp... ORPHA:486
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Rothmund-Thomson Syndrome Type 2
Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Facial erythema, Sparse or absent eyelashes, S... ORPHA:221016
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Hyperkeratosis, Abnormal toenail morphology, Sparse hair, Alopecia ORPHA:1005
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis OMIM:617388
Kanzaki Disease
Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Petechiae... OMIM:609242
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Peau d'orange, Dry skin, Death in infancy OMIM:614576
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Gaucher Disease, Perinatal Lethal
Purpura, Polyhydramnios, Ichthyosis, Petechiae, Hyperkeratosis, Ascites, Congenital nonbullous ic... OMIM:608013
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hyperkeratosis, Death in childhood OMIM:301108
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Trichorhinophalangeal Syndrome, Type Iii
Sparse lateral eyebrow, Epidermal hyperkeratosis, Fine hair, Sparse hair OMIM:190351
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Kindler Epidermolysis Bullosa
Cutaneous photosensitivity, Hyperkeratosis, Abnormal toenail morphology, Palmoplantar keratoderma... ORPHA:2908
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Mednik Syndrome
Ichthyosis, Death in childhood, Death in infancy, Neonatal death, Erythema OMIM:609313
Lig4 Syndrome
Low anterior hairline, Telangiectasia of the skin, Erythema, Cutaneous photosensitivity ORPHA:99812
Graft Versus Host Disease
Scaling skin, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Toxic Epidermal Necrolysis
Acantholysis, Skin ulcer, Erythema ORPHA:537
Chronic Actinic Dermatitis
Epidermal acanthosis, Late onset atopic dermatitis, Cutaneous photosensitivity, Eczematoid dermat... ORPHA:330064
Microvillus Inclusion Disease
Dehydration, Pruritus ORPHA:2290
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Perioral erythema, Dry skin, Perianal erythema, Paronychia OMIM:201100
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Chilblains, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Donohue Syndrome
Nail dysplasia, Hyperkeratosis, Acanthosis nigricans, Hypertrichosis OMIM:246200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkera... ORPHA:79280
Naegeli-Franceschetti-Jadassohn Syndrome
Nail dystrophy, Subungual hyperkeratosis, Decreased number of sweat glands, Dystrophic toenail, D... ORPHA:69087
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Facial erythema, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of t... ORPHA:221008
Myoectodermal Gonadal Dysgenesis Syndrome
Scaling skin, Highly arched eyebrow, Dry skin, Sparse eyebrow, Sparse pubic hair, Absent axillary... OMIM:618419
Generalized Pseudohypoaldosteronism Type 1
Pustule, Dehydration, Atopic dermatitis ORPHA:171876
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Chron... OMIM:158310
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Ichthyosis, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Abnormalit... ORPHA:2273
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis, Abnormality of the nail ORPHA:28378
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity OMIM:278760
Microscopic Polyangiitis
Skin ulcer, Skin rash, Cutis marmorata, Subcutaneous hemorrhage, Erythema ORPHA:727
Propionic Acidemia
Dehydration, Eczematoid dermatitis OMIM:606054
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Nail dystrophy, Small nail, Sclerodactyly, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma OMIM:610644
Sialidosis Type 1
Hyperkeratosis, Vascular skin abnormality ORPHA:812
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Abnormal mast cell morphology ORPHA:398189
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Hereditary Spherocytosis
Skin ulcer, Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentra... ORPHA:822
Localized Scleroderma
Thickened skin, Abnormal skin adnexa morphology, Patchy alopecia, Erythema ORPHA:90289
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Death in infancy ORPHA:163966
Mycetoma
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Prominent superficial veins ORPHA:2583
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia, Pallor OMIM:611804
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema, Cerebral edema ORPHA:439218
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Hyperkeratosis with erythema, Sparse hair OMIM:118650
Behcet Syndrome
Erythema nodosum, Patchy alopecia, Erythema OMIM:109650
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Angioedema, Pustule, Erythroderma, Erythema ORPHA:139402
Noonan Syndrome 10
Hyperkeratosis, Pleural effusion, Increased nuchal translucency, Curly hair, Sparse eyebrow, Palm... OMIM:616564
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle, Palpebral edema ORPHA:99843
Stevens-Johnson Syndrome
Acantholysis, Erythema ORPHA:36426
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Sunct Syndrome
Facial edema, Flushing, Palpebral edema, Facial erythema ORPHA:57145
Angioedema, Hereditary, 1
Angioedema, Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Erythema OMIM:106100
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome