Registered for phenotyping at IMPC

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

Gene Summary

keratin 1
Krt-2.1,  Krt2-1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Krt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Krt1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Krt1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Papule ORPHA:1336
Dowling-Degos Disease 2
Hyperkeratotic papule, Reticular hyperpigmentation, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Darier Disease
Macule, Hypermelanotic macule, Acrokeratosis, Subungual hyperkeratotic fragments, Skin vesicle, A... ORPHA:218
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Generalized hypopigmentation... ORPHA:158681
Acrokeratosis Verruciformis
Epidermal acanthosis, Hyperkeratosis, Acrokeratosis OMIM:101900
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Abnormality of skin pigmentation, Papule ORPHA:315
Acral Peeling Skin Syndrome
Macule, Skin erosion, Erythema, Excessive wrinkling of palmar skin, Papule, Ichthyosis, Hyperpigm... ORPHA:263534
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis, Epidermal acanthosis OMIM:615522
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Hyperkeratosis, Subcutaneous nodule ORPHA:2297
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Erythema, Scaling skin, Orthokeratotic hyperkeratosis OMIM:617571
Familial Benign Chronic Pemphigus
Skin erosion, Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Milia OMIM:131800
Congenital Panfollicular Nevus
Hyperkeratosis, Verrucous papule, Skin nodule ORPHA:139414
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Papule OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:617525
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hy... OMIM:617526
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis, Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Dowling-Degos Disease
Progressive reticulate hyperpigmentation, Mixed hypo- and hyperpigmentation of the skin, Inguinal... ORPHA:79145
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis OMIM:617115
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Porokeratosis Plantaris Palmaris Et Disseminata
Palmoplantar hyperkeratosis, Annular cutaneous lesion, Porokeratosis, Skin plaque, Hyperkeratotic... ORPHA:737
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Skin plaque ORPHA:464318
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hypermelanotic macule, P... ORPHA:79399
Peeling Skin Syndrome 4
Epidermal acanthosis, Orthokeratosis, Hyperkeratosis, Ichthyosis, Scaling skin, Palmoplantar kera... OMIM:607936
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Hypopigmented streaks ORPHA:254478
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Cutis laxa, Skin-colored papule, Serpiginous cutaneous lesion, Annular cuta... ORPHA:79148
Idiopathic Localized Lipodystrophy
Morphea, Hypopigmentation of the skin, Erythema, Scleroderma, Hyperpigmentation of the skin, Scal... ORPHA:90158
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Epidermolytic Hyperkeratosis
Epidermal acanthosis, Scaling skin, Congenital bullous ichthyosiform erythroderma, Palmoplantar h... OMIM:113800
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Hyperkeratos... OMIM:145250
Psoriasis 2
Epidermal acanthosis, Hyperkeratosis, Scaling skin, Parakeratosis OMIM:602723
Infantile Digital Fibromatosis
Epidermal acanthosis, Hyperkeratosis, Parakeratosis, Skin nodule ORPHA:199267
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Hyperkeratosis, Porokeratosis ORPHA:735
Neurofibromatosis Type 6
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Skin erosion, Hypopigmentation of the skin, Palmoplant... ORPHA:89838
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Spotty hyperpigmentation, Erythematous papule, Abnormal epidermal morphology ORPHA:79147
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Palmoplan... ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Keloids, Skin vesicle, Milia, Erythematous papule, Atrophic ... ORPHA:79410
Dowling-Degos Disease 4
Epidermal acanthosis, Hypergranulosis OMIM:615696
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Dry skin, Palmoplantar scaling skin, Nonepidermoly... ORPHA:530838
Ichthyosis, Congenital, Autosomal Recessive 6
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Dry skin,... OMIM:612281
Anonychia With Flexural Pigmentation
Hyperkeratosis, Hypermelanotic macule, Follicular hyperkeratosis, Axillary and groin hyperpigment... ORPHA:69125
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Hyperkeratosis, Thickened skin ORPHA:1659
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmoplantar erythema, Facial erythema, Erythematous plaque, Striae distensae, Erythematous papul... ORPHA:64745
Dyschromatosis Universalis Hereditaria
Macule, Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, H... ORPHA:241
Atrophoderma Vermiculata
Skin pit, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hypoplastic piloseb... ORPHA:79100
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Orthokeratosis, Erythema, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis OMIM:616295
Bazex Syndrome
Acanthosis nigricans, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma, Lip hyperpigmentati... ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, White sca... OMIM:604777
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Cutaneous Mastocytoma
Macule, Hypermelanotic macule, Skin erosion, Erythema, Hyperpigmentation of the skin, Erythematou... ORPHA:79455
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Cutis laxa, Dry skin, Generalized hyperkeratosis, Scaling skin, Generalized... ORPHA:2269
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Orthokeratosis, Piezogenic pedal papules, Yellow papule, Palmoplantar hyper... ORPHA:38
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Palmar hyperkeratosis, Mott... ORPHA:79397
Wells Syndrome
Skin vesicle, Edema ORPHA:901
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Localized epidermolytic hyperkeratosis ORPHA:281127
Pemphigus Foliaceus
Skin erosion, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Acantholysis, Ery... ORPHA:79481
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Parana Hard Skin Syndrome
Generalized hyperpigmentation, Hyperkeratosis, Thickened skin ORPHA:2812
Palmoplantar Keratoderma, Nonepidermolytic
Nonepidermolytic palmoplantar hyperkeratosis OMIM:600962
Aquagenic Palmoplantar Keratoderma
White papule, Skin plaque, Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of hands ... ORPHA:498359
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ulerythema Ophryogenesis
Dry skin, Follicular hyperkeratosis, Facial erythema, Erythematous papule, Hyperkeratotic papule,... ORPHA:3406
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Hyperkeratosis, Scaling skin, Parakeratosis ORPHA:90368
Mal De Meleda
Epidermal acanthosis, Erythema, Ichthyosis, Nonepidermolytic palmoplantar hyperkeratosis, Palmopl... ORPHA:87503
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis OMIM:613102
Bathing Suit Ichthyosis
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratos... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Hyperkeratosis, Skin plaque, Punctate palmoplantar hyperkeratosis, Skin-col... ORPHA:79151
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis OMIM:212360
Ichthyosis Vulgaris
Absent keratohyalin granules, Ichthyosis, Dry skin OMIM:146700
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, ... OMIM:615024
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Erythema, Palmoplantar hyperkeratosis OMIM:607602
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Macule, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hy... ORPHA:2199
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis, Ichthyosis, Thin skin, Palmoplantar keratoderma ORPHA:455
Dermatitis Herpetiformis
Skin vesicle, Macule, Erythema, Edema ORPHA:1656
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkerat... OMIM:133200
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin OMIM:614457
Acquired Ichthyosis
Erythema, Dry skin, Papule, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma ORPHA:454
Basan Syndrome
Palmoplantar keratoderma, Milia, Hypermelanotic macule, Epidermal acanthosis OMIM:129200
Darier-White Disease
Acrokeratosis, Hypermelanotic macule, Subungual hyperkeratotic fragments, Acantholysis, Palmar pi... OMIM:124200
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Iga Pemphigus
Skin erosion, Annular cutaneous lesion, Acantholysis, Skin plaque, Skin vesicle ORPHA:555905
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Ichthyosis, Hypergranulosis, Epidermal acanthosis OMIM:615022
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Skin ulcer, Papule, Hyperkeratosis lenticularis perstans ORPHA:409
Pemphigus Erythematosus
Skin erosion, Localized skin lesion, Acantholysis, Erythematous plaque, Focal dermal aplasia/hypo... ORPHA:79480
Olmsted Syndrome, X-Linked
Epidermal acanthosis, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:300918
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Annular cutaneous lesion, Psoriasiform lesion, Erythematous plaque, Intermittent generalized eryt... ORPHA:284426
Lipoid Proteinosis Of Urbach And Wiethe
Skin erosion, Papule, Hyperkeratosis, Skin plaque, Thickened skin OMIM:247100
Hyperkeratosis, Abnormality of skin pigmentation, Dermal atrophy ORPHA:79358
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Papule, Edema OMIM:616069
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Papule, Hyperkeratosis, Milia, Skin plaque, Atrophic scars, Dermal atrophy ORPHA:89843
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Pityriasis Rubra Pilaris
Orthokeratosis, Subungual hyperkeratosis, Erythematous plaque, Palmoplantar keratoderma, Hypergra... OMIM:173200
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Hyperkeratosis, Skin ulcer, Palmoplantar keratoderma, Congenital bullous ichthyosifor... ORPHA:312
Ichthyosis With Confetti
Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Scaling skin, Palmoplantar hyperker... OMIM:609165
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin ORPHA:461
Ichthyosis Hystrix, Curth-Macklin Type
Ichthyosis OMIM:146590
Classic Mycosis Fungoides
Irregular hyperpigmentation, Erythema, Dry skin, Hyperkeratosis, Skin plaque, Skin ulcer, Hypopig... ORPHA:2584
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin, Dermal atrophy, Diffuse palmoplantar hyperkeratosis OMIM:617294
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Str... OMIM:148700
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Scaling skin, Dry skin OMIM:609180
Intermediate Generalized Junctional Epidermolysis Bullosa
Milia, Abnormality of skin pigmentation, Atrophic scars, Palmoplantar keratoderma, Scarring alope... ORPHA:79402
Skin Fragility-Woolly Hair Syndrome
Palmoplantar erythema, Acantholysis, Palmoplantar scaling skin, Palmoplantar hyperkeratosis OMIM:607655
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Hyperpigmentation of the skin, Epidermal hyperkera... OMIM:104100
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin, Erythema OMIM:194400
Lichen Planopilaris
Papule, Hyperkeratosis, Skin ulcer, Hypopigmented skin patches, Dermal atrophy ORPHA:525
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Skin vesicle, Papule, Dermal atrophy ORPHA:257
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Erythrokeratodermia Variabilis
Macule, Irregular hyperpigmentation, Hypermelanotic macule, Erythema, Dry skin, Patchy palmoplant... ORPHA:317
Proteus Syndrome
Epidermal nevus, Epidermal acanthosis, Depigmentation/hyperpigmentation of skin, Hyperkeratosis, ... OMIM:176920
Pyoderma Gangrenosum
Skin ulcer, Skin vesicle, Papule, Atrophic scars ORPHA:48104
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling, Dry skin OMIM:600630
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis OMIM:604117
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Porphyria Variegata
Skin erosion, Hypopigmentation of the skin, Localized skin lesion, Milia, Hyperpigmentation of th... ORPHA:79473
Hennekam-Beemer Syndrome
Macule, Irregular hyperpigmentation, Erythema, Papule, Generalized hyperpigmentation, Abnormality... ORPHA:2135
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Punctate palmoplantar hyperkeratosis,... OMIM:131960
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... OMIM:601952
Striate Palmoplantar Keratoderma
Palmoplantar keratoderma ORPHA:50942
Keratosis Palmoplantaris Striata Iii
Palmoplantar keratoderma OMIM:607654
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis, Papule, Subcutaneous nodule ORPHA:493
Uv-Sensitive Syndrome 3
Freckling, Dry skin OMIM:614640
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Plantar hyperkeratosis, Epidermal acanthosis OMIM:615735
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Erythema, Dry skin, Generalized hyperpigmentation, Hyperkera... ORPHA:816
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis, Hyperkeratosis OMIM:610227
Chronic Hiccup
Dehydration ORPHA:396
Warty Dyskeratoma
Epidermal thickening, Acrokeratosis, Localized skin lesion, Acantholysis, Umbilicated nodule, Ery... ORPHA:69745
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Vulvovaginal Gingival Syndrome
Epidermal acanthosis, Erythema, Skin erosion, Parakeratosis ORPHA:83453
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Rare Cutaneous Lupus Erythematosus
Mixed hypo- and hyperpigmentation of the skin, Skin detachment, Verrucous papule, Skin erosion, S... ORPHA:535
Erythrokeratodermia Variabilis Et Progressiva 6
Erythematous plaque, Parakeratosis OMIM:618531
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Erythema, Hyperpigmentation of the skin ORPHA:90157
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis OMIM:616029
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Pityriasis Rubra Pilaris
Irregular hyperpigmentation, Subungual hyperkeratosis, Papule, Ichthyosis, Palmoplantar keratoder... ORPHA:2897
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Circumungual hyperke... ORPHA:2200
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Milia, Abnormality of skin pigmentation, Atrophic scars, Aplasia cutis congenita ORPHA:79411
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis OMIM:131850
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis OMIM:618546
Scaling skin, Dry skin OMIM:257960
Olmsted Syndrome 2
Epidermal acanthosis, Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... OMIM:619208
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkera... OMIM:615023
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Hyperpigmentation of the skin, Generalized ichthyosis, Follicular hyperkera... OMIM:608649
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Hyperkeratosis, Freckling ORPHA:1573
Retinohepatoendocrinologic Syndrome
Pallor, Abnormality of skin pigmentation OMIM:268040
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis, Ichthyosis, Palmoplan... OMIM:606545
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin, Scaling skin, Skin erosion, Thickened skin ORPHA:79456
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Palmoplantar Keratoderma, Epidermolytic
Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmar hyperkeratosis, Palmoplant... OMIM:144200
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Chronic Actinic Dermatitis
Epidermal acanthosis, Erythematous papule, Hypopigmented skin patches, Progressive hyperpigmentation ORPHA:330064
Rothmund-Thomson Syndrome, Type 1
Cafe-au-lait spot, Hyperkeratosis OMIM:618625
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Scarring alope... OMIM:602540
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Lamellar Ichthyosis
Lack of skin elasticity, Dehydration, Hyperkeratosis, Dry skin ORPHA:313
Verrucous papule, Erythematous macule, Hyperparakeratosis, Serpiginous cutaneous lesion, Annular ... ORPHA:182
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Papule, Ichthyosis ORPHA:494
Reticular Dysgenesis
Skin ulcer, Dehydration ORPHA:33355
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratos... OMIM:242300
Epidermodysplasia Verruciformis, Susceptibility To, 3
Palmar pits, Epidermal acanthosis OMIM:618267
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis ORPHA:505
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Abnormality of skin pigmentation, Thin skin, Skin ulcer ORPHA:743
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Nevus, Vitiligo OMIM:193200
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Abnormality of skin pigmentation, Thin skin ORPHA:745
Pemphigus Vulgaris
Atypical scarring of skin, Acantholysis ORPHA:704
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis,... OMIM:242100
Familial Renal Glucosuria
Dehydration ORPHA:69076
Leopard Syndrome 3
Dry skin, Multiple lentigines, Numerous nevi, Hyperkeratosis, Epidermal hyperkeratosis, Few cafe-... OMIM:613707
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:615821
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Centrifugal Lipodystrophy
Erythema, Scaling skin ORPHA:90156
Chilblain Lupus
Skin ulcer, Hyperkeratosis, Erythematous papule ORPHA:90280
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Pallor ORPHA:2786
Ichthyosis, Erythematous plaque, Scaling skin ORPHA:79323
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Dry skin, Freckles in sun-exposed areas, Hyperpigmentation of the s... ORPHA:90342
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Dyskeratosis Congenita
Macule, Hypermelanotic macule, Skin vesicle, Aplasia/Hypoplasia of the skin, Skin ulcer, Palmopla... ORPHA:1775
Familial Cold Urticaria
Dehydration, Erythema ORPHA:47045
Autosomal Dominant Hyper-Ige Syndrome
Skin ulcer, Skin vesicle, Papule ORPHA:2314
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Dry skin, Ichthyosis, Hyperkeratosis, Abnormality of skin pigmentation OMIM:612379
Hidrotic Ectodermal Dysplasia
Hypopigmentation of hair, Palmoplantar hyperkeratosis, Hyperpigmentation of the skin, Palmoplanta... ORPHA:189
Hypotrichosis 6
Erythema, Follicular hyperkeratosis OMIM:607903
Peeling Skin Syndrome 1
Scaling skin OMIM:270300
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Flynn-Aird Syndrome
Hyperkeratosis, Dermal atrophy OMIM:136300
Pulmonary Blastoma
Weight loss ORPHA:64741
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Sweet Syndrome
Erythematous plaque, Erythematous papule, Skin nodule, Skin vesicle, Pyoderma gangrenosum ORPHA:3243
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Epidermal acanthosis, Acanthosis nigricans, Dry skin, Hyperkeratosis, Ichthyosis, Parakeratosis OMIM:618527
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Orthokeratosis, Dry skin, Ichthyosis, Parakeratosis OMIM:607626
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Hematochezia, Weight loss, Abnormal circulating polysaccharide concentration, Hypoal... ORPHA:103910
Enteric Anendocrinosis
Dehydration ORPHA:83620
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sclerodactyly, Dry skin, Facial erythema, Scaling skin, Palmoplantar keratoderma, Skin fissure ORPHA:1010
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Dry skin, Follicular hyperkeratosis OMIM:308205
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis OMIM:613576
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Harlequin Ichthyosis
Dehydration, Hyperkeratosis ORPHA:457
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Weight loss ORPHA:3389
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Pilodental Dysplasia With Refractive Errors
Reticular hyperpigmentation, Follicular hyperkeratosis OMIM:262020
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Weight loss, Ascites, Gastrointestinal hemorrhage ORPHA:2198
X-Linked Dominant Chondrodysplasia Punctata
Ichthyosis, Scarring alopecia of scalp, Scaling skin, Erythematous plaque ORPHA:35173
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Prolidase Deficiency
Abnormality of retinal pigmentation, Erythema, Dry skin, Papule, Aplasia/Hypoplasia of the skin, ... ORPHA:742
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Acantholysis, Orthokeratosis, Hypergranulosis OMIM:615508
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Orthokeratosis, Verrucous papule, Abnormal epidermal morphology, Palmoplant... ORPHA:79501
Oculocutaneous Albinism Type 3
Blue nevus, Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, Whit... ORPHA:79433
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dry skin, Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma, Scarring alopecia... OMIM:308800
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Epidermal acanthosis, Parakeratosis, Follicular hyperkeratosis OMIM:615225
Familial Melanoma
Nevus, Freckling, Dry skin ORPHA:618
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated carcinoembryonic antigen level ORPHA:100083
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia ORPHA:100024
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation, Papule, Skin nodule ORPHA:53296
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Skin erosion, Aplasia cutis congenita OMIM:609638
Intestinal Dysmotility Syndrome
Polyhydramnios, Weight loss, Failure to thrive OMIM:620045
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pustulosis, Vascul... ORPHA:324964
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis ORPHA:300179
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Kid Syndrome
Epidermal acanthosis, Follicular hyperkeratosis, Scaling skin, Skin plaque, Skin nodule, Palmopla... ORPHA:477
Macule, Petechiae, Erythema, Depigmentation/hyperpigmentation of skin, Skin vesicle ORPHA:324625
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Central Diabetes Insipidus
Dehydration ORPHA:178029
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Atopic dermati... ORPHA:2070
Ramon Syndrome
Abnormality of retinal pigmentation, Hyperkeratosis ORPHA:3019
Immunodeficiency 58
Ichthyosis, Psoriasiform lesion, Scaling skin, Atrophic scars OMIM:618131
Isovaleric Acidemia
Dehydration OMIM:243500
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Hyperkeratosis, Abnormality of skin pigmentation ORPHA:1806
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Hyperpigmentation of the skin, Scaling skin ORPHA:101330
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis OMIM:181600
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Hidrotic Ectodermal Dysplasia, Halal Type
Multiple cafe-au-lait spots, Follicular hyperkeratosis ORPHA:1809
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Pruritus, Splenomegaly ORPHA:86893
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Abnormality of skin pigmentation, Palmop... ORPHA:1979
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Cerebrooculofacioskeletal Syndrome 1
Dehydration OMIM:214150
Fixed Drug Eruption
Skin detachment, Skin erosion, Erythema, Erythematous plaque, Hyperpigmentation of the skin ORPHA:293812
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation ORPHA:2222
Lipoid Proteinosis
Thickened skin, Hyperkeratosis, Papule, Subcutaneous nodule ORPHA:530
Naegeli-Franceschetti-Jadassohn Syndrome
Generalized reticulate brown pigmentation, Hypopigmentation of the skin, Subungual hyperkeratosis... ORPHA:69087
Chronic Graft Versus Host Disease
Morphea, Erythema, Abnormality of skin pigmentation, Intermittent generalized erythematous papula... ORPHA:99921
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Heteroch... OMIM:193510
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... ORPHA:90362
Pachyonychia Congenita
Cutaneous cyst, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural areas,... ORPHA:2309
Generalized Pseudohypoaldosteronism Type 1
Pustule, Hypovolemic shock, Dehydration, Atopic dermatitis, Arrhythmia, Increased circulating ren... ORPHA:171876
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Hyperkeratosis, Penetrating foot ulcers ORPHA:36386
Graft Versus Host Disease
Lichenoid skin lesion, Skin erosion, Scaling skin, Cutaneous sclerotic plaque ORPHA:39812
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Hypermelanotic macule OMIM:609056
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperkeratosis, Hyperpigmentation of the skin OMIM:615355
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:167200
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Abnormality of skin pigmentation, Subcutaneous nodule, Nevus,... ORPHA:626
Hodgkin Lymphoma
Weight loss, Pruritus, Splenomegaly ORPHA:98293
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... OMIM:613673
Psoriasis 14, Pustular
Epidermal acanthosis, Erythema, Parakeratosis OMIM:614204
Focal Facial Dermal Dysplasia Type Iv
Nevus, Abnormal epidermal morphology ORPHA:398189
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios, Neonatal death OMIM:263200
Netherton Syndrome
Dehydration, Dry skin ORPHA:634
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle, Palpebral edema ORPHA:99843
Olmsted Syndrome 1
Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Odontoonychodermal Dysplasia
Epidermal acanthosis, Orthokeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Erythema, Dr... OMIM:257980
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Arrhythmia, Death in infancy, Congestive heart failure ORPHA:157973
Rhabdoid Tumor
Anemia, Internal hemorrhage, Hypercalcemia, Hypertension, Weight loss, Thrombocytopenia ORPHA:69077
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, W... ORPHA:507
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Inflammatory abnormality of the skin, Hypoprotein... ORPHA:398063
Huntington Disease-Like 2
Weight loss ORPHA:98934
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Verrucous papule ORPHA:2611
Follicular Lymphoma
Weight loss, Lymphedema, Pleural effusion, Splenomegaly ORPHA:545
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis OMIM:617388
Costello Syndrome
Lack of skin elasticity, Acanthosis nigricans, Redundant skin, Generalized hyperpigmentation, Hyp... ORPHA:3071
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration OMIM:560000
Ectodermal Dysplasia-Skin Fragility Syndrome
Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis ORPHA:158668
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin OMIM:606367
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... ORPHA:98850
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Takayasu Arteritis
Hypertrophic cardiomyopathy, Vasculitis, Cerebral ischemia, Myocardial infarction, Weight loss, H... ORPHA:3287
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Pericarditis, Hyperten... ORPHA:767
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Eosinophilia, Palpitatio... ORPHA:75566
Juvenile Huntington Disease
Weight loss, Cerebellar vermis atrophy, Cerebellar atrophy ORPHA:248111
Bacterial Toxic-Shock Syndrome
Localized skin lesion, Ecchymosis, Scaling skin ORPHA:36234
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Hyperkeratosis OMIM:617337
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial inf... ORPHA:330001
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Dry skin, Hyperkeratosis, Thin skin, Generalized hypopigmentation of... ORPHA:238468
Galactose Epimerase Deficiency
Weight loss, Splenomegaly ORPHA:79238
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Vitiligo OMIM:614700
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Propionic Acidemia
Dehydration OMIM:606054
Rheumatoid Arthritis
Joint swelling, Weight loss, Elevated circulating C-reactive protein concentration, Vasculitis OMIM:180300
Naxos Disease
Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Acantholysis... OMIM:601214
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Peripheral edema, Hypoalbuminemia, Gastrointestin... ORPHA:2494
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Weight loss, Pleural effusion ORPHA:50251
Meige Disease
Skin erosion, Skin dimple, Atypical scarring of skin, Skin ulcer, Cobblestone-like hyperkeratosis ORPHA:90186
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Dry skin, Scaling skin, Subcutaneous nodule, Skin ulcer, Thi... ORPHA:2526
Beta-Ketothiolase Deficiency
Pallor, Dehydration, Edema ORPHA:134
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Thin skin ORPHA:1810
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion ORPHA:169154
Attrv30M Amyloidosis
Weight loss, Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Weight lo... ORPHA:2902
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Oligohydramnios OMIM:208085
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Familial Thrombocytosis
Chronic myelogenous leukemia, Miscarriage, Transient ischemic attack, Splenomegaly, Cerebral isch... ORPHA:71493
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Skin rash, Weight loss, Neutropenia, Agammaglobulinemia, Anemia,... ORPHA:47
Poikiloderma With Neutropenia
Reticular hyperpigmentation, Plantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, De... OMIM:604173
Netherton Syndrome
Angioedema, Hypernatremic dehydration, Parakeratosis OMIM:256500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Dehydration ORPHA:213
Majeed Syndrome
Failure to thrive, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Congenital hypopl... ORPHA:77297
Congenital Disorder Of Glycosylation, Type Im
Ichthyosis, Hyperkeratosis, Dry skin OMIM:610768
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Xeroderma Pigmentosum
Macule, Hypermelanotic macule, Erythema, Dry skin, Hyperkeratosis, Freckling, Thin skin, Melanocy... ORPHA:910
Elevated circulating creatine kinase concentration, Arrhythmia, Vasculitis, Pericarditis, Myocard... ORPHA:732
Isaacs Syndrome
Weight loss ORPHA:84142
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Generalized reticulate brown pigmentation, Hyperkeratosis, Reticular hyperpigmentation OMIM:301220
Inflammatory Pseudotumor Of The Liver
Weight loss, Increased hepatitis B virus antibody level ORPHA:90003
Al Amyloidosis
Increased circulating antibody level, Abnormal P wave, Jaw claudication, Increased circulating NT... ORPHA:85443
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Patent ductus arteriosus, Anemia, Hypertrophic cardiomyopathy ORPHA:1842
Parkes Weber Syndrome
Skin ulcer, Erythematous plaque, Scaling skin, Capillary malformation ORPHA:90307
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Elevated circulating C-reactive... ORPHA:93672
Chronic Mucocutaneous Candidiasis
Skin ulcer, Hyperkeratosis, Erythema, Papule ORPHA:1334
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis, Hypermelanotic macule OMIM:246200
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Christianson Syndrome
Cachexia, Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy, Death in early adulthood ORPHA:85278
Systemic Capillary Leak Syndrome
Pulmonary edema, Leukocytosis, Arrhythmia, Myocarditis, Pericarditis, Hypotension, Pedal edema, P... ORPHA:188
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Pedal edema, Reduced... ORPHA:75565
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia, Palpitations, Tachycardia OMIM:188580
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Eczema, Perioral eczema, Weight loss, Thrombocytopenia ORPHA:79242
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Eosinophilic Fasciitis
Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss ORPHA:3165
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... ORPHA:79430
Restrictive Dermopathy
Skin erosion, Dermal translucency, Generalized hyperkeratosis, Scaling skin, Epidermal hyperkerat... ORPHA:1662
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatosplenomegaly, Chilblains, Pericarditis, Hemolytic anemia, Weight loss, H... OMIM:619487
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, Abnormal neutro... ORPHA:3226
Trichothiodystrophy 1, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Freckling, Dry skin OMIM:601675
Werner Syndrome
Abnormality of retinal pigmentation, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Hyp... ORPHA:902
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Pten Hamartoma Tumor Syndrome
Hyperkeratotic papule, Freckling, Plantar pits, Papule ORPHA:306498
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Pleural empyema, Constrictive pericarditis, Weight loss, Hypoalbuminemia, Pleural e... ORPHA:67
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Myoectodermal Gonadal Dysgenesis Syndrome
Scaling skin, Dry skin OMIM:618419
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Free Sialic Acid Storage Disease
Skin ulcer, Iris hypopigmentation, Abnormality of skin pigmentation ORPHA:834
Wolcott-Rallison Syndrome
Dehydration, Ascites ORPHA:1667
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Hematemesis, ... OMIM:615846
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Splenomegaly, Epistaxis, Pulmon... ORPHA:729
Classic Hodgkin Lymphoma
Skin rash, Weight loss, Pruritus, Splenomegaly ORPHA:391
Mulibrey Nanism
Cachexia ORPHA:2576
Allergic Bronchopulmonary Aspergillosis
Weight loss, Pulmonary arterial hypertension, Abnormal eosinophil morphology ORPHA:1164
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis, Dermal translucency, Freckling OMIM:137940
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cutis laxa, Abnormality of skin pigmentation, Thin skin, Atrophic scars, Atypical scarring of skin ORPHA:75496
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Scaling skin ORPHA:294023
Spinocerebellar Ataxia 48
Cachexia, Cerebellar atrophy OMIM:618093
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dehydration, Edema ORPHA:20
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Joint swelling, Splenomegaly, Arrhythmia, Abnormali... ORPHA:465508
Perifollicular hyperkeratosis OMIM:158000
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Wilson Disease
Joint swelling, Failure to thrive, Splenomegaly, Weight loss, Pruritus, Increased body weight, An... ORPHA:905
Neonatal Lupus Erythematosus
Hyperkeratosis, Parakeratosis, Erythematous plaque ORPHA:398124
Riddle Syndrome
Erythema, Scaling skin ORPHA:420741
Huntington Disease-Like 2
Weight loss OMIM:606438
Follicular hyperkeratosis ORPHA:573
Cardiofaciocutaneous Syndrome
Excessive wrinkled skin, Redundant skin, Dry skin, Multiple lentigines, Generalized hyperpigmenta... ORPHA:1340
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis OMIM:615279
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epidermal nevus, Epidermal acanthosis, Orthokeratosis, Erythema, Hyperkeratosis, Nevus, Congenita... OMIM:308050
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Peripheral Primitive Neuroectodermal Tumor
Elevated alpha-fetoprotein, Weight loss, Pruritus, Elevated carcinoma antigen 125 level, Anemia, ... ORPHA:370348
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Dry skin OMIM:614576
Popov-Chang syndrome
Hyperkeratosis, Dry skin OMIM:618428
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Xerostomia, Pericarditis, Weight loss OMIM:617321
Kaposi Sarcoma
Weight loss, Lymphedema, Abnormality of the spleen, Skin rash ORPHA:33276
Palmoplantar cutis laxa, Dehydration ORPHA:173
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hypokalemia, Tachycardia OMIM:613239
Pseudomyxoma Peritonei
Weight loss, Ascites ORPHA:26790
Bullous Pemphigoid
Eczema, Weight loss, Psoriasiform dermatitis ORPHA:703
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Dend Syndrome
Dehydration ORPHA:79134
Restrictive Dermopathy 1
Epidermal hyperkeratosis, Scaling skin, Thin skin, Skin erosion OMIM:275210
Mast Cell Sarcoma
Weight loss, Mastocytosis, Splenomegaly ORPHA:66661
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocyti... ORPHA:35858
Pearson Marrow-Pancreas Syndrome
Pallor, Dehydration, Hydrops fetalis, Erythema OMIM:557000
Noonan Syndrome 2
Palmoplantar cutis laxa, Hyperkeratosis, Hyperpigmentation of the skin, Nevus, Cafe-au-lait spot OMIM:605275
Simple Cryoglobulinemia
Raynaud phenomenon, Monoclonal elevation of circulating IgA, Vasculitis, Pericarditis, Monoclonal... ORPHA:91139
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Poems Syndrome
Increased circulating antibody level, Abnormality of skin physiology, Polycythemia, Thrombocytosi... ORPHA:2905
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Thymic Carcinoma
Weight loss, Palpebral edema, Edema ORPHA:99868
Perry Syndrome
Weight loss, Hypotension ORPHA:178509
Malignant Peritoneal Mesothelioma
Weight loss, Pedal edema, Ascites ORPHA:168811
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hyperalaninemia, Cachexia, Anemia, Weight loss ORPHA:298
Rat-Bite Fever
Scaling skin ORPHA:31205
Renal Hypoplasia
Dehydration ORPHA:93101
Noonan Syndrome 10
Palmoplantar cutis laxa, Cafe-au-lait spot, Hyperkeratosis, Hyperpigmentation of the skin OMIM:616564
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Kindler Epidermolysis Bullosa
Erythema, Aplasia/Hypoplasia of the skin, Hyperkeratosis, Abnormality of skin pigmentation, Milia... ORPHA:2908
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Epidermal acanthosis, Hyperkeratosis OMIM:612852
Increased circulating antibody level, Chronic oral candidiasis, Abnormal neutrophil count, Pleura... ORPHA:723
Pachyonychia Congenita 3
Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis, Follicular hyperkeratosis OMIM:615726
Desmoplastic Small Round Cell Tumor
Cachexia, Anemia, Ascites, Weight loss ORPHA:83469
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration OMIM:304800
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Leukocytosis, Anemia, Elevated circulating creatinine concentratio... ORPHA:90060
Castleman Disease
Increased circulating interleukin 6 concentration, Decreased mean corpuscular volume, Elevated ci... ORPHA:160
Cobblestone-like hyperkeratosis, Cutaneous cyst, Subcutaneous nodule ORPHA:2583
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia ORPHA:54251
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Polyhydramnios, Cerebellar atrophy OMIM:618186
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Periorbit... ORPHA:514
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis OMIM:601812
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Eosinophilia, Myocarditis, Angioedema, Erythroderma, Weight lo... ORPHA:139402
Inflammatory Bowel Disease 11
Weight loss, Hematochezia OMIM:191390
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Graves Disease, Susceptibility To, 1
Weight loss, Congestive heart failure OMIM:275000
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Abnormal atrioventricular conduction, Noncompaction cardiomyo... ORPHA:3208
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Huntington Disease-Like 1
Weight loss, Cerebellar atrophy ORPHA:157941
Huntington Disease
Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index ORPHA:399
Cryptogenic Organizing Pneumonia
Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1302
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Arthrogryposis And Ectodermal Dysplasia
Atypical scarring of skin, Hyperkeratosis, Dry skin OMIM:601701
Pfapa Syndrome
Weight loss, Splenomegaly ORPHA:42642
Medium Chain Acyl-Coa Dehy