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Gene: Spink5 MGI:1919682

Gene Summary

Name:

serine peptidase inhibitor, Kazal type 5

Synonyms:

2310065D10Rik, LEKT1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
absent vibrissae		Spink5^em1(IMPC)J	HET		Early adult	2.65×10^-05
preweaning lethality, complete penetrance		Spink5^em1(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

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Auditory Brain Stem Response

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

7 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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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.

Human diseases associated with Spink5 (2 diseases)
Human diseases predicted to be associated with Spink5 (694 diseases)

The table below shows human diseases associated to Spink5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Netherton Syndrome		Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Angioedema, Hypernatremic dehydration,...	OMIM:256500
Netherton Syndrome		Eczematoid dermatitis, Skin rash, Ichthyosis, Acanthosis nigricans, Erythroderma, Congenital nonb...	ORPHA:634

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

Disease	Matching phenotypes	Source
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p...	OMIM:620507
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Scaling skin, ...	ORPHA:90368
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos...	ORPHA:3406
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Pruritis on breast, Urticarial plaq...	ORPHA:64745
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Peeling Skin Syndrome 5	Epidermal acanthosis, Scaling skin	OMIM:617115
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar ...	OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis	OMIM:617756
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Scal...	ORPHA:166113
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ...	OMIM:607903
Keratosis Palmoplantaris Striata Ii	Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma, Abnormality of the nail	OMIM:612908
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri...	OMIM:615821
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i...	OMIM:618531
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin, Scaling skin	OMIM:146590
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Generalized abnormality of skin, Palmoplantar hyperkeratosi...	ORPHA:737
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis,...	ORPHA:100976
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke...	OMIM:212360
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Vulvovaginal Gingival Syndrome	Erythema, Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus	ORPHA:83453
Darier Disease	Plantar pits, Palmoplantar keratoderma, Hypermelanotic macule, Subungual hyperkeratotic fragments...	ORPHA:218
Olmsted Syndrome 2	Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos...	OMIM:619208
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Parakeratosis, Nail ...	OMIM:242300
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper...	OMIM:601952
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc...	ORPHA:2269
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri...	ORPHA:87503
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Macular telang...	ORPHA:69125
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Diffuse Palmoplantar Keratoderma, Bothnian Type	Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer	ORPHA:2337
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar...	OMIM:300918
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Pruritus, Recurrent skin infections, Hy...	ORPHA:454
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis, Fragile skin	OMIM:615028
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus	ORPHA:79100
Classic Mycosis Fungoides	Erythema, Alopecia, Skin ulcer, Eczematoid dermatitis, Dry skin, Skin rash, Pruritus, Hyperkerato...	ORPHA:2584
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Epidermal aca...	OMIM:607936
Psoriasis 2	Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:602723
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Familial Benign Chronic Pemphigus	Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis	ORPHA:2841
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy...	ORPHA:505
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Erythema migrans, Parakeratosis, Skin vesicle, Skin fragility with non-scarring blistering, Pruritus	ORPHA:158681
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Erythrod...	OMIM:612281
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Atypical scarring of skin, Keloids, Localized skin lesion, Erythematous pa...	ORPHA:79410
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper...	ORPHA:79503
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Erythrokeratodermia Variabilis	Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Cutan...	ORPHA:317
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider...	OMIM:604777
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Crust...	ORPHA:79147
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Leukonychia, Onycholysis, Epidermal acanthosis, Follicular hyperkeratosis, Punctate pal...	OMIM:616295
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Epidermal acant...	OMIM:617525
Pemphigus Foliaceus	Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma...	ORPHA:79481
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Dowling-Degos Disease	Hyperkeratotic papule, Palmar pits, Erythematous papule, Acne inversa, Epidermoid cyst, Hypermela...	ORPHA:79145
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Ectodermal dysplasia...	OMIM:604536
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
White Sponge Nevus 2	Epidermal acanthosis, Edema, Hyperparakeratosis	OMIM:615785
Ichthyosis With Confetti	Hypertrichosis, Ichthyosis, Hypoplastic nipples, Palmoplantar hyperkeratosis, Erythroderma, Scali...	OMIM:609165
Wells Syndrome	Skin vesicle, Pruritus, Edema	ORPHA:901
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery...	OMIM:104100
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Epidermal acanthosis	OMIM:614204
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous...	OMIM:113800
Quinquaud Folliculitis Decalvans	Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre...	ORPHA:346
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, Excessive skin...	ORPHA:498359
Congenital Panfollicular Nevus	Skin nodule, Hyperkeratosis, Verrucous papule	ORPHA:139414
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Erythema, Scarring alopecia of scalp, Pustule	ORPHA:222
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmoplantar scaling skin, Death in early adu...	OMIM:605676
Parana Hard Skin Syndrome	Generalized hirsutism, Thickened skin, Hyperkeratosis	ORPHA:2812
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
Lichen Planus Pemphigoides	Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:254478
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Absent toenail, Abnormal toenail...	ORPHA:89838
Netherton Syndrome	Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Angioedema, Hypernatremic dehydration,...	OMIM:256500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Nail dystrophy, Palmar hyperkeratosis, Skin fragility with non-scarring blistering, Plantar hyper...	ORPHA:79399
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Orthokeratosis, Pruritus, Dry skin, Ichthyosis, Sparse eyelashes, Parak...	OMIM:607626
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Idiopathic Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Morphea, Scl...	ORPHA:90158
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis	OMIM:613943
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Dystrophic toenail, Diffuse palmoplantar hyperkeratosis, Dystrophic fingernails, ...	ORPHA:495
Pemphigoid Gestationis	Skin vesicle, Pruritus	ORPHA:63275
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Mal De Meleda	Ichthyosis, Congenital symmetrical palmoplantar keratosis, Perioral erythema, Fragile nails	OMIM:248300
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Cutaneous photosensitivi...	OMIM:618546
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Alopecia, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Small nail, ...	OMIM:242100
Iga Pemphigus	Skin erosion, Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Sk...	ORPHA:555905
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ...	OMIM:224750
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Ectodermal dysplasia, Follicular hyperke...	OMIM:615225
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Death in childhood, Scaling skin, Hyperkeratosis, Congenital nonb...	OMIM:614457
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Sparse eyelashe...	OMIM:308800
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dystrophic toenail, Telangiectasia, Dystrophic fingernails, Crusting erythematous derma...	ORPHA:158673
Erythema Elevatum Diutinum	Skin nodule, Skin vesicle, Skin rash	ORPHA:90000
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Cutaneous Mastocytoma	Erythema, Thickened skin, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, A...	ORPHA:79455
Acral Peeling Skin Syndrome	Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin	ORPHA:263534
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou...	ORPHA:312
Ichthyosis Vulgaris	Dry skin, Absent keratohyalin granules	OMIM:146700
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin, Patchy alope...	OMIM:247100
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Cutis marmorata, Malar rash...	ORPHA:90280
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hidrotic Ectodermal Dysplasia	Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ...	ORPHA:189
Ichthyosis Prematurity Syndrome	Dermatographic urticaria, Alopecia of scalp, Epidermal acanthosis, Follicular hyperkeratosis, Ery...	OMIM:608649
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Edema	ORPHA:455
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair, Palmoplantar keratoderma, Fragile skin	OMIM:620415
Cole Disease	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m...	OMIM:615522
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hype...	OMIM:618527
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta...	ORPHA:2199
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane...	OMIM:613736
Odontoonychodermal Dysplasia	Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Epidermal a...	OMIM:257980
Dowling-Degos Disease 4	Epidermal acanthosis, Pruritus, Hypergranulosis	OMIM:615696
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera...	OMIM:148700
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye...	OMIM:602540
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Ep...	ORPHA:79151
Lichen Planopilaris	Alopecia, Skin ulcer, Abnormal fingernail morphology, Onycholysis, Pruritus, Hyperkeratosis	ORPHA:525
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Dermatitis Herpetiformis	Erythema, Eczematoid dermatitis, Skin vesicle, Macule, Pruritus, Edema	ORPHA:1656
Sjögren-Larsson Syndrome	Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Urticaria	ORPHA:816
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, White f...	ORPHA:742
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Dermatitis, Atopic	Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial erythema, Pruritus...	OMIM:603165
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Poor wound healing, Absent h...	ORPHA:1010
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Folliculitis, Nail dystrophy, Sparse eyelashe...	OMIM:612843
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, P...	ORPHA:313
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholy...	OMIM:101900
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis	OMIM:136630
Congenital Disorder Of Glycosylation, Type If	Dry skin, Death in infancy, Erythroderma, Scaling skin, Hyperkeratosis	OMIM:609180
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Conjunctival tel...	OMIM:618373
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology	ORPHA:89843
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Moynahan Syndrome	Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Pruritus, Cutaneous photosensitivity	ORPHA:33314
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Aicardi-Goutieres Syndrome 5	Dry skin, Thrombocytopenia, Scaling skin	OMIM:612952
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair, Hyperkeratosis	OMIM:618625
Acute Generalized Exanthematous Pustulosis	Facial edema, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltra...	ORPHA:293173
Peeling Skin Syndrome 1	Eosinophilia, Scaling skin	OMIM:270300
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Psoriasiform lesion, Malar rash, Cutaneous photosensitivity, Vasculitis in th...	ORPHA:163525
Hydroa Vacciniforme	Papulovesicular eruption, Erythema, Eczematoid dermatitis, Malar rash, Hydroa vacciniforme, Super...	ORPHA:330058
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:606545
Centrifugal Lipodystrophy	Erythema, Alopecia, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, La...	ORPHA:90156
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h...	OMIM:602400
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy	OMIM:616487
Harlequin Ichthyosis	Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Hyperkeratosis, Dehydration	ORPHA:457
Vibratory Urticaria	Facial erythema, Dermatographic urticaria, Flushing, Urticaria	OMIM:125630
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ...	ORPHA:573
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh...	OMIM:620014
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Skin rash, Diffuse telan...	ORPHA:280779
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic...	OMIM:613102
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer, Abnormal fingernail morphology, Skin rash, Abnormal toenail morphology, Bro...	ORPHA:1334
Chromomycosis	Hyperkeratotic papule, Predominantly lower limb lymphedema, Vascular skin abnormality, Hyperparak...	ORPHA:182
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Ectodermal dysplasia, Follicular hyperkeratosis, Sparse hair, Congenita...	OMIM:613576
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Scaling skin, Hyperkeratosis	ORPHA:454831
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Skin frag...	ORPHA:79397
Basan Syndrome	Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy	OMIM:129200
Recessive X-Linked Ichthyosis	Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:461
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera...	ORPHA:2200
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hyperke...	ORPHA:494
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Cutaneous photosensitivity, Parakeratosis, Maculopapular exanthema, Hyperk...	ORPHA:398124
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Pyoderma Gangrenosum	Skin ulcer, Atrophic scars, Pustule, Skin vesicle, Papule	ORPHA:48104
Pressure-Induced Localized Lipoatrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue	ORPHA:90160
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor...	ORPHA:659
Cutaneous Small Vessel Vasculitis	Erythema, Cutis marmorata, Skin rash, Recurrent skin infections, Purpura, Urticaria	ORPHA:889
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Papule, Polyhydramnios, Dehydration	OMIM:616069
Diffuse Cutaneous Mastocytosis	Thickened skin, Dermatographic urticaria, Generalized abnormality of skin, Erythroderma, Scaling ...	ORPHA:79456
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Vasculitis i...	ORPHA:90159
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Mastocytosis, Cutaneous	Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria	OMIM:154800
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,...	OMIM:158000
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma, Epidermal acanthosis	OMIM:615022
Chronic Hiccup	Dehydration	ORPHA:396
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair	ORPHA:1573
Cutaneous Photosensitivity And Colitis, Lethal	Erythema, Early cutaneous photosensitivity, Death in infancy	OMIM:219095
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Sparse body hair, Abnormal fingernail morphology, Abnormal toenail morpholo...	ORPHA:1809
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Hyperkeratosis	OMIM:136300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Alopecia, Orthokeratosis, Congenital ichthyosiform erythroderma, Small nail, Parakerato...	OMIM:308050
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Maculopapular Cutaneous Mastocytosis	Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Pruritus, Flu...	ORPHA:79457
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Palmoplantar keratoderma, Chapped lip, Recurrent skin infections, Nail dyst...	ORPHA:158668
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Hypertrichosis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis	OMIM:612379
Kid Syndrome	Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Progeroid facial appearance, Acne inversa...	ORPHA:477
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Death in in...	OMIM:610768
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Dry skin, Hypoplastic toenails, Onycholysis, Hyperkera...	ORPHA:1028
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Epidermal acanthosis, Hyperkeratosis, Congenital n...	OMIM:615023
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Nail dystrophy, Anonychia, Epidermal acanthosis, Hyperkeratosis	OMIM:616029
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration, Neonatal death	OMIM:602199
Ramon Syndrome	Generalized hirsutism, Telangiectasia of the skin, Hyperkeratosis	ORPHA:3019
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Hidrotic ectodermal dysplasia, Brittle hair, Sparse hair, Hyperkeratosis	ORPHA:1883
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Alopecia totalis, Neonatal death, Anonychia, Acantholysis, Absent fingernail	OMIM:609638
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle	ORPHA:257
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Skin ulcer, Neutropenia	OMIM:620443
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv...	OMIM:617337
Pemphigus Vulgaris	Acantholysis, Alopecia of scalp, Recurrent cutaneous abscess formation, Urticaria	ORPHA:704
Complex Regional Pain Syndrome	Erythema, Dry skin, Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Ped...	ORPHA:83452
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair...	ORPHA:2890
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Bruising susceptibility	OMIM:143850
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Psoriasiform lesio...	ORPHA:169154
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tail banding, Nail dystrophy, Cutane...	OMIM:601675
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Ichthyosis, Sparse eyelashes, Patchy alopecia, Abnormal hair pattern...	ORPHA:35173
Incontinentia Pigmenti	Erythema, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplas...	OMIM:308300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Recurrent ski...	OMIM:615508
Bullous Impetigo	Pustule, Erythema, Recurrent bacterial skin infections	ORPHA:36237
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Skin ulcer, Lymphedema, Cobblestone-like hyper...	ORPHA:90186
Darier-White Disease	Ridged nail, Subungual hyperkeratotic fragments, Acrokeratosis, Acantholysis, Pruritus	OMIM:124200
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Reticular Dysgenesis	Skin ulcer, Skin rash, Dehydration	ORPHA:33355
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Leopard Syndrome 3	Dry skin, Low posterior hairline, Curly hair, Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Necrobiosis Lipoidica	Erythema, Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia of the skin, Fragile skin	ORPHA:542592
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Fragile skin, Cutaneous photosensitivity, Epidermal hyperkeratosis	OMIM:620483
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Epidermal ac...	ORPHA:38
Naxos Disease	Sparse eyebrow, Subungual hyperkeratosis, Palmoplantar keratoderma, Sparse body hair, Nail dystro...	OMIM:601214
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis	OMIM:167200
Idiopathic Trachyonychia	Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Ichthyosis, Nail dystrop...	ORPHA:79153
Familial Cold Urticaria	Erythema, Pruritus, Dehydration	ORPHA:47045
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Skin ulcer, Eczematoid dermatitis, Skin rash, Skin vesicle, Pruritus, Papule	ORPHA:2314
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermatitis, Breast aplasia, Trichorr...	ORPHA:238468
Erythema Of Acral Regions	Erythema	OMIM:227000
Primary Erythromelalgia	Erythema, Pruritus	ORPHA:90026
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Keratolytic Winter Erythema	Erythema	OMIM:148370
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Dry skin, Death in childhood, Neonatal death, Absent eyelashes, Ectodermal dysplasia, Absent eyeb...	OMIM:308205
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Pyoderma gangrenos...	OMIM:150550
Autosomal Erythropoietic Protoporphyria	Erythema, Eczematoid dermatitis, Pruritus, Cutaneous photosensitivity, Edema	ORPHA:79278
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Horizontal eyebrow, Chapped lip, Generalized abnormality of skin, Chronic monilial nail...	ORPHA:294023
Dracunculiasis	Recurrent cutaneous abscess formation, Skin ulcer	ORPHA:231
Familial Cold Autoinflammatory Syndrome 3	Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Pruritus	OMIM:614468
Noonan Syndrome 8	Eczematoid dermatitis, Pleural effusion, Palmoplantar cutis laxa, Curly hair, Polyhydramnios, Hyp...	OMIM:615355
Lipoid Proteinosis	Acne, Thickened skin, Alopecia of scalp, Pustule, Hyperkeratosis	ORPHA:530
Drug-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90157
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Oligohydramnios, Absent toenail, Absent eyelashes, Abse...	ORPHA:158687
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Erythema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal edema	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	Erythema, Psoriasiform dermatitis, Eczematoid dermatitis, Pruritus	OMIM:254400
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Fine hair, Abnormal fingernail morphology, Sparse hair, Hyperkeratosis	ORPHA:1806
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma	ORPHA:2698
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Cutis marmorata, Malar rash, Nail dystrophy, Skin rash, Telangiectasia, ...	OMIM:615934
Proteus Syndrome	Epidermal acanthosis, Hyperkeratosis	OMIM:176920
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer, Death in infancy	ORPHA:2028
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Alopecia, Lymphedema, Palpebral edema, R...	OMIM:137940
Sweet Syndrome	Erythematous papule, Acne inversa, Predominantly dermal neutrophilic infiltrate, Erythematous pla...	ORPHA:3243
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Huriez Syndrome	Small nail, Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy	OMIM:181600
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Protoporphyria, Erythropoietic, 1	Erythema, Pruritus, Eczematoid dermatitis, Edema	OMIM:177000
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Sl...	OMIM:618535
Ifap Syndrome 2	Ichthyosis follicularis, Atrichia, Perioral erythema, Nail dystrophy, Sparse hair	OMIM:619016
Hereditary Acrokeratotic Poikiloderma	Erythema, Xerostomia, Dystrophic toenail, Skin ulcer, Eczematoid dermatitis, Nail dystrophy, Icht...	ORPHA:2907
Immunodeficiency 58	Cold urticaria, Eczematoid dermatitis, Cutaneous abscess, Molluscum contagiosum, Chronic mucocuta...	OMIM:618131
Incontinentia Pigmenti	Erythema, Alopecia, Ridged fingernail, Dystrophic toenail, Skin ulcer, Supernumerary nipple, Abno...	ORPHA:464
Netherton Syndrome	Eczematoid dermatitis, Skin rash, Ichthyosis, Acanthosis nigricans, Erythroderma, Congenital nonb...	ORPHA:634
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Costello Syndrome	Abnormal hair morphology, Abnormal fingernail morphology, Redundant skin, Hypoplastic toenails, L...	ORPHA:3071
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos...	OMIM:259100
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Hyperkeratosis, Fine hair	ORPHA:1839
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis, Bruising susceptibility	ORPHA:300179
Acrodermatitis Enteropathica	Erythema, Alopecia, Ridged fingernail, Skin ulcer, Generalized abnormality of skin, Abnormal eyeb...	ORPHA:37
Recon Progeroid Syndrome	Progeroid facial appearance, Dry skin, Hyperconvex thumb nails, Hirsutism, Livedo reticularis, Sc...	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	Erythema, Papule, Skin vesicle, Macule, Subcutaneous nodule, Pruritus	ORPHA:2135
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, Psoriasiform dermatitis, Pruritus, Urticaria	ORPHA:703
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb...	OMIM:616216
Milroy Disease	Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema	ORPHA:79452
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia, Telangiectasia of the skin, Hyperkeratosis, Lymphedema	ORPHA:79279
Mpdu1-Cdg	Ichthyosis, Eczematoid dermatitis, Scaling skin	ORPHA:79323
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin...	ORPHA:2309
Aplasia Cutis Congenita	Erythema, Skin ulcer	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, Pustule, Erythroderma, Onychogryposis, Perianal erythema, Paronychia	OMIM:614328
C1Q Deficiency 2	Discoid lupus rash, Malar rash, Chilblains, Facial erythema, Vasculitis in the skin	OMIM:620321
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Pyoderma ga...	OMIM:604416
Herpes Simplex Virus Stromal Keratitis	Corneal stromal edema, Herpetiform vesicles	ORPHA:137599
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Eczematoid dermatitis, Psoriasiform dermatitis, Patchy alopecia, Erythroder...	OMIM:606367
Granulomatous Slack Skin	Erythema, Cutis laxa, Redundant skin	ORPHA:33111
Leishmaniasis	Skin ulcer, Leukopenia, Pancytopenia, Pallor, Abnormal macrophage morphology, Splenomegaly, Throm...	ORPHA:507
Beta-Thalassemia	Skin ulcer, Microcytic anemia, Pallor, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:848
Poikiloderma With Neutropenia	Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Nail dystrophy, Skin rash, Low ...	OMIM:604173
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Porphyria Cutanea Tarda	Poor wound healing, Cutaneous abscess, Hypertrichosis, Hirsutism, Fragile skin, Scaling skin, Cut...	ORPHA:101330
Acrogeria	Skin ulcer, Fine hair, Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appe...	ORPHA:2500
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair	OMIM:615279
Porphyria Variegata	Milia, Localized skin lesion, Skin erosion, Skin vesicle	ORPHA:79473
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Chikungunya	Facial edema, Erythema, Skin rash, Joint swelling, Petechiae, Crusting erythematous dermatitis, S...	ORPHA:324625
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse eyelashes, Nail dysplasia, Absent ...	OMIM:148210
Interstitial Granulomatous Dermatitis With Arthritis	Erythema, Inflammatory abnormality of the skin, Pruritus	ORPHA:79099
Combined Malonic And Methylmalonic Acidemia	Dehydration	ORPHA:289504
Corneodermatoosseous Syndrome	Erythema, Thickened skin, Palmoplantar keratoderma, Abnormal fingernail morphology, Absent finger...	ORPHA:3194
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coarse hair, Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Para...	ORPHA:83617
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, H...	ORPHA:79501
De Sanctis-Cacchione Syndrome	Telangiectasia, Parakeratosis, Cutaneous photosensitivity	OMIM:278800
Congenital Enterocyte Heparan Sulfate Deficiency	Dehydration, Edema	ORPHA:103910
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Alopecia, Palmoplantar keratoderma, Generalized abnormality of skin, Nail dystrophy, Fr...	ORPHA:79396
Isolated Agammaglobulinemia	Skin ulcer, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality of neutrophils,...	ORPHA:229717
Warty Dyskeratoma	Acrokeratosis, Acantholysis, Abnormal fingernail morphology, Epidermal thickening	ORPHA:69745
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hemophagocytosis, Hepatosplenomegaly, Skin ulcer	ORPHA:86884
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Chylothorax, Skin ulcer, Erysipelas, Lymphedema, Abnormal hair morphology, Dry sk...	ORPHA:2526
Combined Oxidative Phosphorylation Deficiency 47	Dehydration	OMIM:618958
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Seborrheic dermatitis, Hyperparakeratosis	ORPHA:276280
Restrictive Dermopathy 1	Sparse eyebrow, Short nail, Stillbirth, Oligohydramnios, Sparse eyelashes, Absent eyelashes, Neon...	OMIM:275210
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Buerger Disease	Skin ulcer	ORPHA:36258
Werner Syndrome	Abnormal hair whorl, Subcutaneous calcification, Skin ulcer, Premature graying of hair, White for...	ORPHA:902
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer	ORPHA:743
Pachyonychia Congenita 3	Palmoplantar keratoderma, Chapped lip, Onychogryposis of toenails, Nail dystrophy, Follicular hyp...	OMIM:615726
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Pachyonychia Congenita 2	Sparse eyebrow, Dry hair, Subungual hyperkeratosis, Folliculitis, Nail dystrophy, Nail dysplasia,...	OMIM:167210
Dermatomyositis	Erythema, Alopecia, Shawl sign, Skin ulcer, V-sign, Heliotrope rash, Dry skin, Skin rash, Facial ...	ORPHA:221
Pemphigus Erythematosus	Acantholysis, Malar rash	ORPHA:79480
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Dry skin, Nail dysplasia, Trichodysplasia, Ectodermal dysplasia, Absent eyebrow, Hype...	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 adolescence, Death in childhood, Dehydration	OMIM:560000
Xeroderma Pigmentosum	Erythema, Alopecia, Thickened skin, Dry skin, Cutaneous photosensitivity, Telangiectasia, Conjunc...	ORPHA:910
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Skin ulcer, B lymphocytopenia	ORPHA:217390
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Ichthyosis, Sparse hair, Hyperkeratosis	ORPHA:3474
Dyskeratosis Congenita	Palmoplantar keratoderma, Skin ulcer, Hypopigmented skin patches, Skin vesicle, Aplasia/Hypoplasi...	ORPHA:1775
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Broad eyebrow, Cutis marmorata, Frontal upsweep of hair, Hyperkeratosis	OMIM:301220
Prolidase Deficiency	Skin ulcer, Eczematoid dermatitis, Facial hirsutism, Petechiae, Low posterior hairline, Diffuse t...	OMIM:170100
Reynolds Syndrome	Xerostomia, Skin ulcer, Generalized abnormality of skin, Ascites, Skin rash, Telangiectasia of th...	ORPHA:779
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Juvenile Dermatomyositis	Erythema, Alopecia, Skin ulcer, Dry skin, Skin rash, Telangiectasia of the skin, Palpebral edema,...	ORPHA:93672
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Bruising susceptibility, Striae distensae, Ecchymosis, Hirsutism, Facial eryt...	OMIM:219090
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Fixed Drug Eruption	Crusting erythematous dermatitis, Erythema, Generalized abnormality of skin	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	Albinism, Thickened skin, Hypopigmentation of hair, Hyperkeratosis	ORPHA:79431
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Psoriasiform lesion, Autoimmune hemolytic anemia, Splenomegaly, Decreased proportio...	OMIM:614700
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric...	OMIM:618773
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Erythema, Cystic acne, Acne inversa	OMIM:608068
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Immunodeficiency 114, Folate-Responsive	Skin ulcer, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia	OMIM:620603
Ollier Disease	Anemia, Skin ulcer	ORPHA:296
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Fountain Syndrome	Facial edema, Erythema, Cutis marmorata, Thick eyebrow, Synophrys	ORPHA:3219
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Glutamine Deficiency, Congenital	Erythema, Neonatal death	OMIM:610015
Subcorneal Pustular Dermatosis	Pustule, Erythema, Pruritus	ORPHA:48377
Snakebite Envenomation	Erythema, Edema, Angioedema, Ecchymosis	ORPHA:449285
Isovaleric Acidemia	Dehydration	OMIM:243500
Restrictive Dermopathy	Sparse eyebrow, Short nail, Generalized hyperkeratosis, Sparse or absent eyelashes, Aplasia/Hypop...	ORPHA:1662
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Oligohydramnios, Ichthyosis, Dehydration	OMIM:208085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dehydration	ORPHA:79312
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Joint swelling, Skin rash, Pustule, Epidermal acanthosis, Hyperkeratosis	OMIM:612852
Autosomal Agammaglobulinemia	Recurrent skin infections, Skin rash, Dehydration	ORPHA:33110
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Fine hair, Lymphedema, Dry skin, Aplasia/Hypoplasia of the eyebrow, Spa...	ORPHA:1340
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Mhc Class I Deficiency 1	Skin ulcer	OMIM:604571
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Vascular skin abnormality, Angioedema, Bruising susceptibility, Skin rash, ...	ORPHA:761
Bacterial Toxic-Shock Syndrome	Abscess, Ecchymosis, Increased circulating myelocyte count, Thrombocytopenia, Scaling skin, Incre...	ORPHA:36234
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Leukemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocy...	ORPHA:486
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Rothmund-Thomson Syndrome Type 2	Facial edema, Erythema, Porokeratosis, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas...	ORPHA:221016
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Ichthyosis, Abnormal toenail morphology, Sparse hair, Hyperkeratosis	ORPHA:1005
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Palmoplantar hyperkeratosis, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:617388
Kanzaki Disease	Lymphedema, Dry skin, Petechiae, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffus...	OMIM:609242
Gaucher Disease, Perinatal Lethal	Ascites, Petechiae, Ichthyosis, Nonimmune hydrops fetalis, Neonatal death, Hyperkeratosis, Polyhy...	OMIM:608013
Congenital Disorder Of Glycosylation, Type Iil	Dry skin, Hyperkeratosis, Death in infancy, Peau d'orange	OMIM:614576
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
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 hair, Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis	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
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Kindler Epidermolysis Bullosa	Erythema, Palmoplantar keratoderma, Cutaneous photosensitivity, Abnormal toenail morphology, Recu...	ORPHA:2908
Mednik Syndrome	Erythema, Ichthyosis, Death in infancy, Death in childhood, Neonatal death	OMIM:609313
Lig4 Syndrome	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Low anterior hairline	ORPHA:99812
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Dehydration	OMIM:264350
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Dry skin, Alopecia of scalp, Perianal erythema, Paronychia	OMIM:201100
Graft Versus Host Disease	Hepatosplenomegaly, Hemophagocytosis, Scaling skin	ORPHA:39812
Toxic Epidermal Necrolysis	Erythema, Acantholysis, Skin ulcer	ORPHA:537
Chronic Actinic Dermatitis	Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal acanthosis, Pruritus...	ORPHA:330064
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Donohue Syndrome	Nail dysplasia, Acanthosis nigricans, Hyperkeratosis, Hypertrichosis	OMIM:246200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corporis...	ORPHA:79280
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Dystrophic toenail, Decreased number of sweat glands, Dry skin, Fragile...	ORPHA:69087
Rothmund-Thomson Syndrome Type 1	Facial edema, Porokeratosis, Alopecia totalis, Sparse or absent eyelashes, Telangiectasia, Nail d...	ORPHA:221008
Carnitine Deficiency, Systemic Primary	Dehydration	OMIM:212140
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Sparse pubic hair, Sparse eyebrow, Dry skin, Frontal upsweep of hair, Scal...	OMIM:618419
Generalized Pseudohypoaldosteronism Type 1	Pustule, Atopic dermatitis, Dehydration	ORPHA:171876
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Chronic mucocutaneous candidiasis, Chronic monilial nail infection, Nail d...	OMIM:158310
Tyrosinemia Type 2	Abnormality of the nail, Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Alopecia, Eczematoid dermatitis, Hypoplastic fingernail, Abnormal hair morphology, Thin...	ORPHA:2273
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Microscopic Polyangiitis	Erythema, Skin ulcer, Subcutaneous hemorrhage, Cutis marmorata, Skin rash	ORPHA:727
Propionic Acidemia	Eczematoid dermatitis, Dehydration	OMIM:606054
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Small nail, Nail dystrophy, Orthokeratotic hyperkeratosis, Sclerodactyly	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
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Hereditary Spherocytosis	Spontaneous hemolytic crises, Skin ulcer, Extramedullary hematopoiesis, Increased mean corpuscula...	ORPHA:822
Localized Scleroderma	Erythema, Patchy alopecia, Thickened skin, Abnormal skin adnexa morphology	ORPHA:90289
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Pallor, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, ...	ORPHA:3226
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Elliptocytosis 1	Hemolytic anemia, Pallor, Splenomegaly, Elliptocytosis	OMIM:611804
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Prominent superficial veins	ORPHA:2583
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Sparse hair, Coarse hair	OMIM:118650
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Kcnq2-Related Epileptic Encephalopathy	Cerebral edema, Facial erythema, Pallor	ORPHA:439218
Behcet Syndrome	Erythema, Patchy alopecia, Erythema nodosum	OMIM:109650
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Angioedema, Skin rash, Pustule, Erythroderma	ORPHA:139402
Noonan Syndrome 10	Sparse eyebrow, Increased nuchal translucency, Pleural effusion, Palmoplantar cutis laxa, Curly h...	OMIM:616564
Leukocyte Adhesion Deficiency Type Ii	Palpebral edema, Skin vesicle	ORPHA:99843
Stevens-Johnson Syndrome	Erythema, Acantholysis	ORPHA:36426
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Sunct Syndrome	Facial edema, Palpebral edema, Facial erythema, Flushing	ORPHA:57145
Angioedema, Hereditary, 1	Erythema, Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema	OMIM:106100
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Congenital nonbullous ichthyosiform erythroderma, Cerebral edema, Dry skin	OMIM:620510
Adult Syndrome	Alopecia, Absent nipple, Toenail dysplasia, Skin ulcer, Fine hair, Breast hypoplasia, Dry skin, F...	ORPHA:978
Early-Onset Familial Hypoaldosteronism	Dehydration	ORPHA:556030
Ramon Syndrome	Telangiectasia, Angiokeratoma, Hyperkeratosis, Hypertrichosis	OMIM:266270
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
X-Linked Agammaglobulinemia	Skin ulcer, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation	ORPHA:47
Free Sialic Acid Storage Disease	Splenomegaly, Skin ulcer	ORPHA:834
Rat-Bite Fever	Morbilliform rash, Skin rash, Pustule, Erythema nodosum, Scaling skin, Maculopapular exanthema	ORPHA:31205
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood, Dehydration	OMIM:246450
Tempi Syndrome	Telangiectasia, Transudative pleural effusion, Facial erythema, Ascites	ORPHA:284227
Dermatoosteolysis, Kirghizian Type	Dystrophic fingernails, Abnormality of the nail, Skin ulcer, Dystrophic toenail	ORPHA:1657
Immunodeficiency 23	Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum contagiosum, Vascul...	OMIM:615816
Beta-Ketothiolase Deficiency	Pallor, Dehydration, Edema	ORPHA:134
Calciphylaxis	Abnormality of skin physiology, Cutis marmorata, Skin ulcer	ORPHA:280062
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Death in childhood, Skin rash, Cerebral edema	OMIM:618321
Fucosidosis	Acrocyanosis, Abnormality of the nail, Vascular skin abnormality, Generalized hyperkeratosis	ORPHA:349
Beta-Thalassemia Intermedia	Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr...	ORPHA:231222
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Dry skin, Reduced subcutaneous adipose tissue, Curly hair, Long eyelashes, Urticaria, T...	OMIM:619503
Warburg-Cinotti Syndrome	Erythema, Poor wound healing, Follicular hyperkeratosis, Joint swelling	OMIM:618175
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Chronic Graft Versus Host Disease	Erythema, Xerostomia, Skin ulcer, Ascites, Pleural effusion, Skin vesicle, Intermittent generaliz...	ORPHA:99921
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Oligohydramnios, Dehydration, Neonatal death	OMIM:263200
Papa Syndrome	Skin ulcer	ORPHA:69126
Idiopathic Aplastic Anemia	Pancytopenia, Ecchymosis, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:88
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Hereditary Elliptocytosis	Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticul...	ORPHA:288
Cystinosis	Dehydration	ORPHA:213
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Eczematoid dermatitis, Long eyelashes, Ichthyosis, Curly hair, Polyhydramnios,...	OMIM:607721
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling skin, Petechiae, Thrombocy...	ORPHA:499009
Eec Syndrome	Sparse eyebrow, Coarse hair, Xerostomia, Fine hair, Dry skin, Thick eyebrow, Nail dystrophy, Slow...	ORPHA:1896
Premature Aging Syndrome, Penttinen Type	Thickened skin, Prematurely aged appearance, Corneal stromal edema, Palmoplantar hyperkeratosis, ...	OMIM:601812
Acquired Purpura Fulminans	Pyoderma gangrenosum, Thrombocytopenia, Macular purpura	ORPHA:49566
Adult-Onset Still Disease	Erythema, Joint swelling, Pruritus, Skin rash	ORPHA:829
Cholera	Palmoplantar cutis laxa, Dehydration, Miscarriage	ORPHA:173
Reactive Arthritis	Joint swelling, Pustule, Dystrophic fingernails, Hyperkeratosis, Abnormality of the nail	ORPHA:29207
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration	OMIM:615453
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Cryoglobulinemic Vasculitis	Petechiae, Purpura, Skin ulcer, Splenomegaly	ORPHA:91138
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Dehydration	OMIM:251000
Chronic Granulomatous Disease	Splenomegaly, Abnormality of neutrophils, Skin ulcer, Liver abscess	ORPHA:379
Bone Marrow Failure Syndrome 3	Eczematoid dermatitis, Small nail, Nail dystrophy, Aplasia/Hypoplasia of the eyebrow, Sparse hair...	OMIM:617052
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
Infantile Myofibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2591
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Skin ulcer, Cutaneous abscess, Lymphop...	ORPHA:443811
Takayasu Arteritis	Anemia, Skin ulcer	ORPHA:3287
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Riddle Syndrome	Telangiectasia, Erythema, Conjunctival telangiectasia, Scaling skin	ORPHA:420741
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia	OMIM:246400
Secondary Short Bowel Syndrome	Dehydration	ORPHA:95427
Leprosy	Alopecia, Sparse body hair, Penetrating foot ulcers, Acral ulceration, Loss of eyelashes, Absent ...	ORPHA:548
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Hermansky-Pudlak Syndrome	Thickened skin, Bruising susceptibility, Long eyelashes, Hypopigmentation of hair, Hyperkeratosis	ORPHA:79430
Psoriasis-Related Juvenile Idiopathic Arthritis	Malar rash, Psoriasiform lesion, Psoriasiform dermatitis, Skin rash, Onycholysis, Pruritus, Nail ...	ORPHA:85436
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Ichthyosis, Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-gro...	OMIM:115150
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi...	ORPHA:35858
Kikuchi-Fujimoto Disease	Erythema, Alopecia, Malar rash, Pleural effusion, Skin rash, Pustule, Vasculitis in the skin, Pal...	ORPHA:50918
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Dend Syndrome	Dehydration	ORPHA:79134
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
3-Hydroxy-3-Methylglutaric Aciduria	Pallor, Dehydration, Edema	ORPHA:20
Wolcott-Rallison Syndrome	Ascites, Dehydration	ORPHA:1667
Livedoid Vasculopathy	Poor wound healing, Skin ulcer, Macular purpura, Cutis marmorata, Superficial dermal perivascular...	ORPHA:542643
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Death in childhood, Hydrops fetalis, Dehydration	OMIM:557000
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Hypertrichosis, Malar rash, Facial eryth...	OMIM:210900
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Parkes Weber Syndrome	Skin ulcer, Scaling skin	ORPHA:90307
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Infantile Systemic Hyalinosis	Thickened skin, Skin ulcer, Lymphedema, Telangiectasia of the skin, Urticaria	ORPHA:2176
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Skin ulcer, Rectal abscess	OMIM:116920
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Aplasia cutis congenita of scalp, Aplasia cutis congenita on trunk or limbs, Neonatal death	OMIM:619817
Kawasaki Disease	Abnormality of nail color, Skin rash, Palmoplantar erythema, Scaling skin on fingertip, Jaundice,...	ORPHA:2331
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	High anterior hairline, Hyperkeratosis	OMIM:615510
Osteootohepatoenteric Syndrome	Pruritus, Dehydration	OMIM:619377
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Progeroid facial appearance, Hypertrichosis, Premature graying of hair, Sparse axillary...	OMIM:256040
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Dominant Beta-Thalassemia	Skin ulcer, Reduced hemoglobin A, Persistence of hemoglobin F, Extramedullary hematopoiesis, Hepa...	ORPHA:231226
Focal Dermal Hypoplasia	Erythema, Alopecia, Telangiectasia of the skin, Abnormality of the nail	ORPHA:2092
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Pallor, Leukocytosis, Splenomegaly, Chronic l...	ORPHA:98849
Ulnar Agenesis And Endocardial Fibroelastosis	Hydrops fetalis, Neonatal death	OMIM:276822
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Subcutaneous calcification, Skin ulcer, Progeroid facial appearanc...	ORPHA:79474
Noonan Syndrome 2	Sparse eyebrow, Increased nuchal translucency, Redundant neck skin, Nonimmune hydrops fetalis, Lo...	OMIM:605275
Familial Tumoral Calcinosis	Erythema, Skin rash	ORPHA:53715
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration	OMIM:125800
Blau Syndrome	Erythema, Xerostomia, Skin ulcer, Dry skin, Skin rash, Joint swelling, Ichthyosis, Erythema nodosum	ORPHA:90340
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration	OMIM:304800
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Methylmalonic Aciduria, Cblb Type	Dehydration	OMIM:251110
Systemic Sclerosis	Thickened skin, Alopecia, Digital ulcer, Pruritus, Acral ulceration, Joint swelling, Telangiectas...	ORPHA:90291
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Beta-Thalassemia Major	Skin ulcer, Reduced hemoglobin A, Persistence of hemoglobin F, Extramedullary hematopoiesis, Hepa...	ORPHA:231214
Renal Hypoplasia	Dehydration	ORPHA:93101
Methylmalonic Aciduria, Cbla Type	Dehydration	OMIM:251100
Bethlem Muscular Dystrophy	Hyperkeratosis	ORPHA:610
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Facial hirsutism, Nail dystrophy, Spars...	OMIM:604292
Ullrich Congenital Muscular Dystrophy 1A	Follicular hyperkeratosis	OMIM:254090
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Fragile skin,...	OMIM:614748
Lysosomal Acid Lipase Deficiency	Ascites, Xanthelasma, Xanthomatosis, Pruritus, Dehydration	ORPHA:275761
Melas	Erythema, Hypertrichosis	ORPHA:550
Cushing Disease	Acne, Poor wound healing, Skin ulcer, Bruising susceptibility, Striae distensae, Flushing, Dorsoc...	ORPHA:96253
Sympathetic Ophthalmia	Erythema, Alopecia, Poliosis, Macular edema	ORPHA:79098
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Alternating Hemiplegia Of Childhood	Pallor, Dehydration	ORPHA:2131
Shigellosis	Purpura, Dehydration	ORPHA:810
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Erysipelas, Bruising susceptibility, Skin rash, Periorbital edema	ORPHA:32960
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Dehydration	ORPHA:90791
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Sparse eyelashes, Sparse axillary hair,...	OMIM:129900
Severe Generalized Junctional Epidermolysis Bullosa	Skin erosion, Edema, Pyoderma, Aplasia cutis congenita, Skin plaque, Recurrent skin infections, D...	ORPHA:79404
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia	ORPHA:464343
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Inflammatory abnormality of the skin, Xerostomia, Skin ulcer, Generalized abnormality...	ORPHA:95455
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Skin ulcer, Microcytic anemia, Lymphopenia, Hemol...	ORPHA:906
Fusariosis	Granuloma, Skin ulcer, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutr...	ORPHA:228119
Oligomeganephronia	Dehydration	ORPHA:2260
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Atopic dermatitis, Periorbital edema, Jaundice, Hydrops fetalis, Purpura, Urticaria	OMIM:620376
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Familial Mediterranean Fever	Erythema, Erysipelas, Ascites, Skin rash, Pedal edema	ORPHA:342
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Cutis laxa, Follicular hyperkeratosis, Bruising susceptibility	OMIM:614557
Colchicine Poisoning	Dehydration	ORPHA:31824
Leprechaunism	Thickened skin, Facial hypertrichosis, Hypertrichosis, Reduced subcutaneous adipose tissue, Acant...	ORPHA:508
Vipoma	Ascites, Erythema, Dehydration	ORPHA:97282
Relapsing Polychondritis	Erythema, Alopecia, Purpura	ORPHA:728
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyebrow, Fine hair, Dry skin, Oligohydramnios, Death in childhood, Death in infancy, Spars...	OMIM:210710
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220393
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Skin ulcer, Joint swelling, Death in infancy, Dehydration	ORPHA:534
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Dehydration	ORPHA:79282
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin ulcer, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly...	OMIM:615688
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Thick eyebrow, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, Epidermal...	ORPHA:73223
Insensitivity To Pain, Congenital, With Anhidrosis	Poor wound healing, Acral ulceration, Nail dystrophy, Nail dysplasia, Sparse scalp hair	OMIM:256800
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Fabry Disease	Lymphedema, Angiokeratoma, Conjunctival telangiectasia, Telangiectasia of the skin, Hyperkeratosi...	ORPHA:324
Lymphatic Filariasis	Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema	ORPHA:2035
Hajdu-Cheney Syndrome	Thickened skin, Coarse hair, Skin ulcer, Abnormal fingernail morphology, Dry skin, Thick eyebrow,...	ORPHA:955
Pyruvate Carboxylase Deficiency	Dehydration	ORPHA:3008
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Pearson Syndrome	Corneal stromal edema, Hydrops fetalis, Cafe-au-lait spot, Dehydration	ORPHA:699
Glucagonoma	Subcutaneous lipoma, Ascites, Necrolytic migratory erythema, Skin rash, Intermittent jaundice, Pr...	ORPHA:97280
Giant Cell Arteritis	Alopecia, Skin ulcer	ORPHA:397
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Bruising susceptibility, Excessive wrinkled skin, Palmoplantar cutis laxa, Fo...	OMIM:225400
Infantile Nephropathic Cystinosis	Dehydration	ORPHA:411629
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Microsporidiosis	Skin nodule, Dehydration	ORPHA:2552
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Hyperkeratosis, Low anterior hairline	ORPHA:75857
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios	ORPHA:223
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess, Skin rash,...	OMIM:147060
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Dehydration	ORPHA:96191
Granulomatosis With Polyangiitis	Skin ulcer, Granulomatosis	OMIM:608710
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Malakoplakia	Skin rash, Pruritus, Inflammatory abnormality of the skin, Skin ulcer	ORPHA:556
Scorpion Envenomation	Pulmonary edema, Erythema, Purpura, Edema	ORPHA:466677
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Eczematoid dermatitis, Fair hair, Ichthyosis, Ectodermal dysplasia, Hyperkeratosis	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Eczematoid dermatitis, Fair hair, Ichthyosis, Ectodermal dysplasia, Hyperkeratosis	ORPHA:363958
Isolated Permanent Neonatal Diabetes Mellitus	Dehydration	ORPHA:99885
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Dehydration	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Dehydration	ORPHA:289548
Microphthalmia With Linear Skin Defects Syndrome	Abnormal eyelash morphology, Abnormality of the nail, Erythema	ORPHA:2556
Distal Renal Tubular Acidosis	Dehydration	ORPHA:18
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Pseudoxanthoma Elasticum	Cutis laxa, Civatte bodies	OMIM:264800
Juvenile Nephropathic Cystinosis	Dehydration	ORPHA:411634
Marburg Hemorrhagic Fever	Petechiae, Maculopapular exanthema, Skin rash, Dehydration	ORPHA:99826
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Follicular hyperkeratosis, Fragile skin, Synophrys	ORPHA:536545
Bartter Syndrome Type 4	Polyhydramnios, Dehydration	ORPHA:89938
Blau Syndrome	Eczematoid dermatitis, Skin ulcer, Joint swelling, Cystoid macular edema, Erythema nodosum	OMIM:186580
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Poor wound healing, Skin ulcer, Bruising susceptibility, Striae distensae, Flushing, Dorsoc...	ORPHA:99889
Urachal Cyst	Erythema	ORPHA:488
Multiple Endocrine Neoplasia Type 1	Confetti-like hypopigmented macules, Dehydration, Large cafe-au-lait macules with irregular margins	ORPHA:652
Cystic Fibrosis	Dehydration	OMIM:219700
Bartter Syndrome, Type 1, Antenatal	Polyhydramnios, Dehydration	OMIM:601678
Zollinger-Ellison Syndrome	Erythema, Jaundice	ORPHA:913
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Dehydration, Miscarriage	ORPHA:90794
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma	ORPHA:276152
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Highly arched eyebrow, Frontal balding, Long lower eyelashes, Palmoplantar erythema, Synophrys	OMIM:612474
Cystinosis, Nephropathic	Dehydration	OMIM:219800
Primary Sjögren Syndrome	Normocytic anemia, Skin ulcer, Dry skin, Lymphopenia, Leukopenia, Decreased proportion of CD4-pos...	ORPHA:289390
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Bartter Syndrome, Type 2, Antenatal	Polyhydramnios, Dehydration	OMIM:241200
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia	ORPHA:54251
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Proximal Renal Tubular Acidosis	Dehydration	ORPHA:47159
Amoebiasis Due To Free-Living Amoebae	Pustule, Cerebral edema, Unusual skin infection, Skin ulcer	ORPHA:68
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Cowden Syndrome	Mucosal telangiectasiae, Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Skin ulcer, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Ecchymosis...	ORPHA:2072
Granulomatosis With Polyangiitis	Periorbital edema, Skin rash, Purpura, Skin ulcer	ORPHA:900
Baller-Gerold Syndrome	Erythema	OMIM:218600
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia	OMIM:617099
Simple Cryoglobulinemia	Acral ulceration, Purpura, Cold urticaria, Vascular skin abnormality	ORPHA:91139
Plague	Skin ulcer, Chapped lip, Dry skin, Skin rash, Carbuncle, Erythema nodosum, Edema	ORPHA:707
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th...	OMIM:620565
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Proteus Syndrome	Thickened skin, Vascular skin abnormality, Lymphedema, Generalized hyperkeratosis, Generalized hi...	ORPHA:744
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Prolonged neonatal jaundice, Jaundice, Acral ulceration, Ascites	OMIM:256810
Leukocyte Adhesion Deficiency	Abnormality of neutrophil physiology, Polycythemia, Leukocytosis, Impaired neutrophil chemotaxis,...	ORPHA:2968

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Spink5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Spink5.

No publications found that use IMPC mice or data for Spink5.

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MGI Allele	Allele Type	Produced
Spink5^{tm47986(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Spink5^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Spink5 MGI:1919682

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Spink5 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data