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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
preweaning lethality, complete penetrance		Spink5^em1(IMPC)J	HOM		Early adult	0.00

Download data as: TSV XLS

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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.

Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

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

7 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 (682 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Netherton Syndrome		Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
Netherton Syndrome		Skin rash, Eczema, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ery...	ORPHA:634

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

Disease	Matching phenotypes	Source
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia...	ORPHA:90368
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem...	ORPHA:64745
Ulerythema Ophryogenesis	Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C...	ORPHA:3406
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Scaling skin on fingertip, Hypergranulosis, Palmop...	ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Peeling Skin Syndrome 5	Epidermal acanthosis, Scaling skin	OMIM:617115
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Bazex Syndrome	Parakeratosis, Edema, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst...	ORPHA:166113
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke...	ORPHA:100976
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal...	ORPHA:737
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	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	Hyperkeratosis, Thickened skin	ORPHA:1659
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering...	ORPHA:158681
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Darier Disease	Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Plantar pits, Palmoplantar keratoderma, S...	ORPHA:218
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos...	OMIM:619208
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni...	OMIM:242300
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Anonychia With Flexural Pigmentation	Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h...	ORPHA:69125
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis, Fragile skin	OMIM:615028
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp...	OMIM:300918
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich...	OMIM:607936
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abn...	ORPHA:2584
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos...	ORPHA:505
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy...	OMIM:612281
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Hype...	ORPHA:317
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	OMIM:616295
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C...	ORPHA:2269
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt...	ORPHA:79145
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Nail dystrop...	OMIM:604536
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis, Edema	OMIM:615785
Ichthyosis With Confetti	Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Congenital nonbullous i...	OMIM:609165
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema, Nail dystrophy	OMIM:614204
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,...	OMIM:113800
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Erythem...	ORPHA:346
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule	ORPHA:222
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmop...	OMIM:605676
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Skin vesicle	ORPHA:254478
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Na...	ORPHA:79399
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur...	OMIM:607626
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Thickened skin, Di...	ORPHA:495
Pemphigoid Gestationis	Pruritus, Skin vesicle	ORPHA:63275
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Wells Syndrome	Pruritus, Skin vesicle, Edema	ORPHA:901
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Fragile nails, Perioral erythema, Ichthyosis	OMIM:248300
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k...	OMIM:224750
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H...	OMIM:242100
Dermatitis Herpetiformis	Macule, Eczema, Edema, Pruritus, Erythema, Skin vesicle	ORPHA:1656
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Annular cutaneous lesion,...	ORPHA:555905
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrop...	OMIM:615225
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Pruritus, Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, At...	ORPHA:79410
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm...	OMIM:308800
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e...	OMIM:614457
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule, Skin rash	ORPHA:90000
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan...	ORPHA:158673
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe...	ORPHA:79455
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia, Reduced epidermal extracellular matrix protein 1...	OMIM:247100
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,...	ORPHA:90280
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa, Crusting erythematous dermatitis	ORPHA:79148
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis,...	OMIM:608649
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis	ORPHA:455
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans...	OMIM:618527
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin	OMIM:146700
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Skin ulcer, Hyperkeratosis, Onycholysis	ORPHA:525
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:816
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline...	ORPHA:742
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Poor wound heali...	ORPHA:1010
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Dermatitis, Atopic	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos...	OMIM:603165
Lamellar Ichthyosis	Pruritus, Erythroderma, Dehydration, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse ...	ORPHA:313
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Follicul...	OMIM:612843
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin	OMIM:609180
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scalin...	OMIM:618373
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin, Thrombocytopenia	OMIM:612952
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Cutaneous photosensitivity, Erythema	ORPHA:33314
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair	OMIM:618625
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ...	OMIM:613102
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i...	ORPHA:163525
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pustule, Pruritus, Eosi...	ORPHA:293173
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lack of faci...	ORPHA:90156
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma	OMIM:270300
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Harlequin Ichthyosis	Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat...	OMIM:602400
Ectodermal Dysplasia-Syndactyly Syndrome 2	Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich...	OMIM:613576
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Lupus Erythematosus Tumidus	Scaling skin	ORPHA:90283
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat...	ORPHA:1334
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl...	ORPHA:79397
Basan Syndrome	Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy	OMIM:129200
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin	ORPHA:454831
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Pyoderma Gangrenosum	Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule	ORPHA:48104
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera...	ORPHA:659
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura	ORPHA:889
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Ma...	ORPHA:398124
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Papule, Polyhydramnios, Dehydration	OMIM:616069
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Darier's sign, Urticaria, Dermatographic urticaria, Scaling skin, Eryth...	ORPHA:79456
Vibratory Urticaria	Urticaria, Flushing, Facial erythema	OMIM:125630
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Mastocytosis, Cutaneous	Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i...	ORPHA:90159
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	OMIM:615022
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Chronic Hiccup	Dehydration	ORPHA:396
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Death in infancy, Erythema	OMIM:219095
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform...	OMIM:308050
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Folli...	ORPHA:158668
Maculopapular Cutaneous Mastocytosis	Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu...	ORPHA:79457
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Angioed...	ORPHA:100057
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Pemphigus Vulgaris	Urticaria, Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro...	OMIM:610768
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Ramon Syndrome	Hyperkeratosis, Telangiectasia of the skin, Generalized hirsutism	ORPHA:3019
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia	ORPHA:1883
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule	ORPHA:257
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Complex Regional Pain Syndrome	Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ...	ORPHA:83452
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-posit...	ORPHA:169154
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Erythroderma...	ORPHA:35173
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Erythema, Nail pits, Fine h...	OMIM:308300
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema	ORPHA:36237
Buerger Disease	Skin ulcer	ORPHA:36258
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Trichothiodystrophy 1, Photosensitive	Death in infancy, Brittle hair, Trichoschisis, Fine hair, Telangiectasia, Hyperkeratosis, Fragile...	OMIM:601675
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin	OMIM:613707
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Orthokeratosis...	OMIM:615508
Reticular Dysgenesis	Skin ulcer, Skin rash, Dehydration	ORPHA:33355
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin	ORPHA:542592
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti...	ORPHA:38
Pachyonychia Congenita 1	Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Scaling skin, Death in childhood, Neonat...	OMIM:308205
Naxos Disease	Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Familial Cold Urticaria	Pruritus, Erythema, Dehydration	ORPHA:47045
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle, Papule	ORPHA:2314
Erythema Of Acral Regions	Erythema	OMIM:227000
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Keratolytic Winter Erythema	Erythema	OMIM:148370
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, B lymphocytopen...	OMIM:150550
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, Hyperkeratos...	ORPHA:238468
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Autosomal Erythropoietic Protoporphyria	Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:79278
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Noonan Syndrome 8	Curly hair, Eczema, Polyhydramnios, Hyperkeratosis, Palmoplantar cutis laxa, Pleural effusion	OMIM:615355
Dracunculiasis	Recurrent cutaneous abscess formation, Skin ulcer	ORPHA:231
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Proteus Syndrome	Hyperkeratosis, Epidermal acanthosis	OMIM:176920
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai...	ORPHA:158687
Familial Cold Autoinflammatory Syndrome 3	Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria	OMIM:614468
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1806
Mycosis Fungoides	Pruritus, Erythema, Psoriasiform dermatitis, Eczema	OMIM:254400
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis	ORPHA:2698
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E...	ORPHA:3243
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Death in infancy, Skin ulcer	ORPHA:2028
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis,...	OMIM:615934
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe...	OMIM:137940
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Ifap Syndrome 2	Ichthyosis follicularis, Nail dystrophy, Perioral erythema, Atrichia, Sparse hair	OMIM:619016
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczema, Edema	OMIM:177000
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Seborrheic dermatitis, Chroni...	OMIM:618131
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit...	OMIM:259100
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Palmoplantar hyperkeratosis, S...	ORPHA:2907
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess	OMIM:147060
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Incontinentia Pigmenti	Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Telangiectasia of the ...	ORPHA:464
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Polyhydramnios, Concave nail, Abn...	ORPHA:3071
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Recon Progeroid Syndrome	Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,...	OMIM:620370
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Skin ulcer, Ri...	ORPHA:37
Netherton Syndrome	Skin rash, Eczema, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ery...	ORPHA:634
Hennekam-Beemer Syndrome	Macule, Pruritus, Subcutaneous nodule, Erythema, Skin vesicle, Papule	ORPHA:2135
Vitamin B12-Responsive Methylmalonic Acidemia	Dehydration	ORPHA:28
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita, Polyhydramnios	OMIM:612138
Mpdu1-Cdg	Scaling skin, Eczema, Ichthyosis	ORPHA:79323
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l...	OMIM:145250
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema	ORPHA:79279
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Thrombocytopenia 5	Petechiae, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Sydenham Chorea	Erythema	ORPHA:306731
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis, Steril...	OMIM:604416
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash	OMIM:620321
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Onychogryposis	OMIM:614328
Bullous Pemphigoid	Urticaria, Erythema, Psoriasiform dermatitis, Eczema	ORPHA:703
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Erythroderma, Patchy alopecia, Scaling skin, Chronic oral candid...	OMIM:606367
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Leukope...	ORPHA:507
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle...	ORPHA:2500
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Skin ulcer, Pallor, Anemia	ORPHA:848
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Telangiectasia,...	OMIM:604173
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair	OMIM:615279
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Poor wound healing, Hypertrichosis, Scaling skin, Cutaneous ...	ORPHA:101330
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema	ORPHA:79099
Chikungunya	Macule, Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Pruritus, Crusting er...	ORPHA:324625
Porphyria Variegata	Skin vesicle, Skin erosion, Localized skin lesion, Milia	ORPHA:79473
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis...	ORPHA:79501
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic h...	OMIM:148210
Combined Malonic And Methylmalonic Acidemia	Dehydration	ORPHA:289504
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Thickened skin, Erythema, Palmoplantar keratoderma, Absent finger...	ORPHA:3194
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz...	ORPHA:83617
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration	ORPHA:103910
De Sanctis-Cacchione Syndrome	Parakeratosis, Cutaneous photosensitivity, Telangiectasia	OMIM:278800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Erythema, Palmoplantar keratoderma, Nail dystrophy, Generali...	ORPHA:79396
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, ...	ORPHA:229717
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Thickened skin, Abnormal hair morph...	ORPHA:2526
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Restrictive Dermopathy 1	Prominent superficial blood vessels, Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hype...	OMIM:275210
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Combined Oxidative Phosphorylation Deficiency 47	Dehydration	OMIM:618958
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Telangiectasia of the skin, Seborrheic dermatitis	ORPHA:276280
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Werner Syndrome	Sparse scalp hair, Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Abnormal...	ORPHA:902
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Nail dysplasia, Trichodysplasia...	OMIM:601701
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
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
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Cutis marmorata, Frontal upsweep of hair, Broad eyebrow	OMIM:301220
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Skin ulcer	ORPHA:217390
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Thickened skin, Erythema, Tela...	ORPHA:910
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Dehydration, Death in childhood	OMIM:560000
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Edema, Poor wound healing, Facial erythema, Ecchymosis, Bruising susceptibility...	OMIM:219090
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Xerostomia, Skin ulcer, Ascites, Gener...	ORPHA:779
Juvenile Dermatomyositis	Alopecia, Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer,...	ORPHA:93672
Fixed Drug Eruption	Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin	ORPHA:293812
Dyskeratosis Congenita	Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Hypopigmented skin patches, Skin u...	ORPHA:1775
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Death in childhood	OMIM:214150
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa	OMIM:608068
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Isovaleric Acidemia	Dehydration	OMIM:243500
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Ollier Disease	Anemia, Skin ulcer	ORPHA:296
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule	ORPHA:48377
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia	OMIM:616576
Fountain Syndrome	Cutis marmorata, Facial edema, Synophrys, Erythema, Thick eyebrow	ORPHA:3219
Prolidase Deficiency	Eczema, Crusting erythematous dermatitis, Diffuse telangiectasia, Skin ulcer, Low posterior hairl...	OMIM:170100
Glutamine Deficiency, Congenital	Neonatal death, Erythema	OMIM:610015
Snakebite Envenomation	Ecchymosis, Angioedema, Erythema, Edema	ORPHA:449285
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t...	OMIM:614700
Restrictive Dermopathy	Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ...	ORPHA:1662
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ichthyosis, Death in infancy, Dehydration, Oligohydramnios	OMIM:208085
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial edema, Erythema, Facial erythema,...	ORPHA:221016
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Lymphedema, Abnormal eyelash morphology, Low pos...	ORPHA:1340
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dehydration	ORPHA:79312
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Skin rash, Epidermal acanthosis, Pustule, Hyperkeratosis, Joint swelling	OMIM:612852
Bacterial Toxic-Shock Syndrome	Abscess, Increased circulating myelocyte count, Scaling skin, Ecchymosis, Increased circulating m...	ORPHA:36234
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ...	ORPHA:486
Autosomal Agammaglobulinemia	Recurrent skin infections, Skin rash, Dehydration	ORPHA:33110
Immunoglobulin A Vasculitis	Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, ...	ORPHA:761
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Congenital nonbullous ichthyosiform er...	OMIM:608013
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Hyperkeratosis, Dry skin, Death in infancy	OMIM:614576
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration	OMIM:610600
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Dehydration	OMIM:264350
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Corticosterone Methyloxidase Type I Deficiency	Dehydration	OMIM:203400
Graft Versus Host Disease	Hemophagocytosis, Scaling skin, Hepatosplenomegaly	ORPHA:39812
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial edema, Facial erythema, Telangiec...	ORPHA:221008
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Mednik Syndrome	Death in infancy, Erythema, Ichthyosis, Death in childhood, Neonatal death	OMIM:609313
Aicardi-Goutieres Syndrome 1	Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu...	OMIM:609242
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Adult-Onset Still Disease	Pruritus, Joint swelling, Erythema, Skin rash	ORPHA:829
Lig4 Syndrome	Telangiectasia of the skin, Cutaneous photosensitivity, Erythema, Low anterior hairline	ORPHA:99812
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Erythroderma, Cutaneous pho...	ORPHA:330064
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Abnormal toenail m...	ORPHA:2908
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin	OMIM:201100
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Nail dysplasia, Hypertrichosis	OMIM:246200
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair, Scaling skin, ...	OMIM:618419
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry ...	ORPHA:69087
Xeroderma Pigmentosum, Complementation Group F	Cutaneous photosensitivity, Erythema	OMIM:278760
Carnitine Deficiency, Systemic Primary	Dehydration	OMIM:212140
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Acantholysis	ORPHA:537
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abnormal hair mor...	ORPHA:2273
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Generalized Pseudohypoaldosteronism Type 1	Pustule, Atopic dermatitis, Dehydration	ORPHA:171876
Microscopic Polyangiitis	Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage	ORPHA:727
Propionic Acidemia	Eczema, Dehydration	OMIM:606054
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An...	ORPHA:79280
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Mucoepithelial Dysplasia, Hereditary	Alopecia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Follicular hyperkeratos...	OMIM:158310
Sialidosis Type 1	Hyperkeratosis, Vascular skin abnormality	ORPHA:812
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Abnormal epidermal morphology	ORPHA:398189
Dermatomyositis	Abnormal hair quantity, Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema,...	ORPHA:221
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor	OMIM:611804
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema	OMIM:106100
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Mycetoma	Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis	ORPHA:2583
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Behcet Syndrome	Erythema nodosum, Erythema, Patchy alopecia	OMIM:109650
Localized Scleroderma	Thickened skin, Erythema, Patchy alopecia, Abnormal skin adnexa morphology	ORPHA:90289
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle, Palpebral edema	ORPHA:99843
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Increased nuchal translucency, Hyperkeratosis, Palmoplantar cutis lax...	OMIM:616564
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Angioedema, Erythema, Erythroderma	ORPHA:139402
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples...	ORPHA:978
Sunct Syndrome	Facial edema, Palpebral edema, Flushing, Facial erythema	ORPHA:57145
Hyperimmunoglobulinemia D With Periodic Fever	Acrocyanosis, Urticaria, Erythema, Purpura	ORPHA:343
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Ramon Syndrome	Hyperkeratosis, Telangiectasia, Angiokeratoma, Hypertrichosis	OMIM:266270
Noonan Syndrome 2	Curly hair, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low posterior hairline...	OMIM:605275
Stevens-Johnson Syndrome	Erythema, Acantholysis	ORPHA:36426
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Free Sialic Acid Storage Disease	Splenomegaly, Skin ulcer	ORPHA:834
Early-Onset Familial Hypoaldosteronism	Dehydration	ORPHA:556030
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail	ORPHA:1657
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Skin ulcer, Neutropenia, Anemia	ORPHA:47
Calciphylaxis	Cutis marmorata, Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Rat-Bite Fever	Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Scaling skin, Morbilliform rash	ORPHA:31205
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema	ORPHA:284227
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Skin rash, Cerebral edema, Death in childhood	OMIM:618321
Immunodeficiency 23	Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum contagiosum	OMIM:615816
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Synophrys, Facial erythema, Scaling skin, Thoracic hypertrichosis, Medial flaring ...	OMIM:619503
Beta-Ketothiolase Deficiency	Pallor, Edema, Dehydration	ORPHA:134
Fucosidosis	Acrocyanosis, Generalized hyperkeratosis, Abnormality of the nail, Vascular skin abnormality	ORPHA:349
Warburg-Cinotti Syndrome	Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis	OMIM:618175
Papa Syndrome	Skin ulcer	ORPHA:69126
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Dehydration	OMIM:251000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Hyperkeratosis, Loose anagen hair, Long ey...	OMIM:607721
Cystinosis	Dehydration	ORPHA:213
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Xerostomia, Nail pits, Fine hair, Hyperkeratosis, Coarse hair,...	ORPHA:1896
Chronic Graft Versus Host Disease	Erythema, Xerostomia, Intermittent generalized erythematous papular rash, Skin ulcer, Skin vesicl...	ORPHA:99921
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Reactive Arthritis	Pustule, Hyperkeratosis, Joint swelling, Dystrophic fingernails, Abnormality of the nail	ORPHA:29207
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Acquired Purpura Fulminans	Pyoderma gangrenosum, Thrombocytopenia, Macular purpura	ORPHA:49566
Cholera	Palmoplantar cutis laxa, Miscarriage, Dehydration	ORPHA:173
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat...	OMIM:601812
Cryoglobulinemic Vasculitis	Splenomegaly, Petechiae, Skin ulcer, Purpura	ORPHA:91138
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Bone Marrow Failure Syndrome 3	Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:617052
Infantile Myofibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2591
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration	OMIM:615453
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
Takayasu Arteritis	Anemia, Skin ulcer	ORPHA:3287
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Ecchymosis, Anemia	ORPHA:88
Riddle Syndrome	Conjunctival telangiectasia, Erythema, Scaling skin, Telangiectasia	ORPHA:420741
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Nail pits, Onycholysis, Malar ...	ORPHA:85436
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Hyperkeratosis, Acral ulcer...	ORPHA:548
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atopic dermatiti...	OMIM:115150
Chronic Granulomatous Disease	Splenomegaly, Abnormality of neutrophils, Liver abscess, Skin ulcer	ORPHA:379
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Secondary Short Bowel Syndrome	Dehydration	ORPHA:95427
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Erythema, Cutaneous photosensitivity, Va...	ORPHA:50918
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Thickened skin, Hyperkeratosis, Long eyelashes, Bruising susceptibility	ORPHA:79430
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
Wolcott-Rallison Syndrome	Ascites, Dehydration	ORPHA:1667
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Cutis marmora...	ORPHA:542643
Bloom Syndrome	Malar rash, Facial erythema, Cutaneous photosensitivity, Facial telangiectasia in butterfly midfa...	OMIM:210900
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Pearson Marrow-Pancreas Syndrome	Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood	OMIM:557000
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
3-Hydroxy-3-Methylglutaric Aciduria	Pallor, Edema, Dehydration	ORPHA:20
Dend Syndrome	Dehydration	ORPHA:79134
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess, Skin ulcer	OMIM:116920
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Lymphedema, Thickened skin, Skin ulcer, Urticaria	ORPHA:2176
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline	OMIM:615510
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp	OMIM:619817
Gcgr-Related Hyperglucagonemia	Necrolytic migratory erythema	ORPHA:438274
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 1	Sparse axillary hair, Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescen...	OMIM:256040
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis	OMIM:276822
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan...	ORPHA:79474
Focal Dermal Hypoplasia	Alopecia, Erythema, Telangiectasia of the skin, Abnormality of the nail	ORPHA:2092
Methylmalonic Aciduria, Cblb Type	Dehydration	OMIM:251110
Osteootohepatoenteric Syndrome	Pruritus, Dehydration	OMIM:619377
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Familial Tumoral Calcinosis	Erythema, Skin rash	ORPHA:53715
Blau Syndrome	Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Ichthyosis, Dry skin	ORPHA:90340
Systemic Sclerosis	Alopecia, Recurrent skin infections, Nail bed telangiectasia, Pruritus, Thickened skin, Digital u...	ORPHA:90291
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration	OMIM:304800
Renal Hypoplasia	Dehydration	ORPHA:93101
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Melas	Erythema, Hypertrichosis	ORPHA:550
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr...	OMIM:614748
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Cushing Disease	Plethora, Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Poor wound healing, R...	ORPHA:96253
Sympathetic Ophthalmia	Macular edema, Alopecia, Erythema, Poliosis	ORPHA:79098
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer...	OMIM:604292
Methylmalonic Aciduria, Cbla Type	Dehydration	OMIM:251100
Lysosomal Acid Lipase Deficiency	Pruritus, Dehydration, Xanthelasma, Xanthomatosis, Ascites	ORPHA:275761
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas	ORPHA:32960
Alternating Hemiplegia Of Childhood	Pallor, Dehydration	ORPHA:2131
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Shigellosis	Dehydration, Purpura	ORPHA:810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Dehydration	ORPHA:90791
Kawasaki Disease	Abnormality of nail color, Skin rash, Edema, Jaundice, Palmoplantar erythema	ORPHA:2331
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer...	OMIM:129900
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Skin ulcer	ORPHA:464343
Familial Mediterranean Fever	Skin rash, Erythema, Pedal edema, Ascites, Erysipelas	ORPHA:342
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Edema, Skin erosion, Dehydration, Pyoderma, Aplasia cutis congenita, S...	ORPHA:79404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholysis, Xerostomia, Skin ulcer...	ORPHA:95455
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Oligomeganephronia	Dehydration	ORPHA:2260
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Skin ulcer, Granuloma, Neutropenia, Lymph...	ORPHA:228119
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Colchicine Poisoning	Dehydration	ORPHA:31824
Leprechaunism	Reduced subcutaneous adipose tissue, Thickened skin, Acanthosis nigricans, Hyperkeratosis, Facial...	ORPHA:508
Relapsing Polychondritis	Alopecia, Erythema, Purpura	ORPHA:728
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Dehydration	ORPHA:79282
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis,...	OMIM:210710
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Skin ulcer, Dehydration, Atypical scarring of skin, Joint swelling	ORPHA:534
Vipoma	Erythema, Ascites, Dehydration	ORPHA:97282
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Leukopenia, Thrombocyto...	OMIM:615688
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220393
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Lymphedema, Hyperkeratosi...	ORPHA:324
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Poor wound healing, Acral ulceration, Nail dystrophy, Nail dysplasia	OMIM:256800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ...	OMIM:225400
Glucagonoma	Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Ascites, Subcutaneous ...	ORPHA:97280
Pyruvate Carboxylase Deficiency	Dehydration	ORPHA:3008
Pearson Syndrome	Corneal stromal edema, Cafe-au-lait spot, Hydrops fetalis, Dehydration	ORPHA:699
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Thickened skin, Synophrys, Low anterior hairline, Skin ulcer, Coa...	ORPHA:955
Giant Cell Arteritis	Alopecia, Skin ulcer	ORPHA:397
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Lymphatic Filariasis	Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema	ORPHA:2035
Infantile Nephropathic Cystinosis	Dehydration	ORPHA:411629
Microsporidiosis	Skin nodule, Dehydration	ORPHA:2552
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios	ORPHA:223
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Oligohydramnios	ORPHA:96191
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Highly arched eyebrow	ORPHA:75857
Granulomatosis With Polyangiitis	Granulomatosis, Skin ulcer	OMIM:608710
Malakoplakia	Pruritus, Inflammatory abnormality of the skin, Skin rash, Skin ulcer	ORPHA:556
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Dehydration	ORPHA:168558
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Fair hair	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Fair hair	ORPHA:363958
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Dehydration	ORPHA:289548
Scorpion Envenomation	Purpura, Erythema, Edema, Pulmonary edema	ORPHA:466677
Distal Renal Tubular Acidosis	Dehydration	ORPHA:18
Isolated Permanent Neonatal Diabetes Mellitus	Dehydration	ORPHA:99885
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Juvenile Nephropathic Cystinosis	Dehydration	ORPHA:411634
Microphthalmia With Linear Skin Defects Syndrome	Abnormal eyelash morphology, Erythema, Abnormality of the nail	ORPHA:2556
Marburg Hemorrhagic Fever	Skin rash, Petechiae, Maculopapular exanthema, Dehydration	ORPHA:99826
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Synophrys, Follicular hyperkeratosis, Bruising susceptibility, Fragile skin	ORPHA:536545
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Blau Syndrome	Eczema, Erythema nodosum, Skin ulcer, Joint swelling, Cystoid macular edema	OMIM:186580
Urachal Cyst	Erythema	ORPHA:488
Bartter Syndrome Type 4	Polyhydramnios, Dehydration	ORPHA:89938
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Poor wound healing, R...	ORPHA:99889
Multiple Endocrine Neoplasia Type 1	Large cafe-au-lait macules with irregular margins, Confetti-like hypopigmented macules, Dehydration	ORPHA:652
Zollinger-Ellison Syndrome	Jaundice, Erythema	ORPHA:913
Bartter Syndrome, Type 1, Antenatal	Polyhydramnios, Dehydration	OMIM:601678
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Miscarriage, Acne, Dehydration	ORPHA:90794
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma	ORPHA:276152
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Highly arched eyebrow, Synophrys, Long lower eyelashes, Palmoplantar erythema	OMIM:612474
Cystinosis, Nephropathic	Dehydration	OMIM:219800
Bartter Syndrome, Type 2, Antenatal	Polyhydramnios, Dehydration	OMIM:241200
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Cystic Fibrosis	Dehydration	OMIM:219700
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Skin ulcer, Leukopenia, Normochromic anemia, Decreased proportion...	ORPHA:289390
Proximal Renal Tubular Acidosis	Dehydration	ORPHA:47159
Amoebiasis Due To Free-Living Amoebae	Pustule, Unusual skin infection, Skin ulcer, Cerebral edema	ORPHA:68
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae	ORPHA:201
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, Hepatospleno...	ORPHA:2072
Granulomatosis With Polyangiitis	Periorbital edema, Skin rash, Skin ulcer, Purpura	ORPHA:900
Baller-Gerold Syndrome	Erythema	OMIM:218600
Proteus Syndrome	Lymphedema, Thickened skin, Abnormal subcutaneous fat tissue distribution, Vascular skin abnormal...	ORPHA:744
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Simple Cryoglobulinemia	Cold urticaria, Vascular skin abnormality, Acral ulceration, Purpura	ORPHA:91139
Plague	Chapped lip, Skin rash, Edema, Erythema nodosum, Skin ulcer, Dry skin	ORPHA:707
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Pyoderma gangrenosum, Abnormality of neut...	ORPHA:2968
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Jaundice, Ascites, Acral ulceration, Prolonged neonatal jaundice	OMIM:256810
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hydromyelia, Hypertrichosis	ORPHA:573278

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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