Gene: Krt1 MGI:96698

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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
Krt2-1,  Krt-2.1

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
Hyperkeratosis, Papule, Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Dowling-Degos Disease 2
Hyperkeratotic papule, Hypomelanotic macule, Reticular hyperpigmentation, Follicular hyperkeratosis OMIM:615327
Darier Disease
Abnormality of skin pigmentation, Plantar pits, Acrokeratosis, Palmoplantar keratoderma, Subungua... ORPHA:218
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Hyperpigmentation of the skin, Generalized reticulate brown pigmentation, Parak... ORPHA:158681
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis, Epidermal acanthosis OMIM:101900
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Papule, Hyperkeratosis ORPHA:315
Acral Peeling Skin Syndrome
Ichthyosis, Skin erosion, Scaling skin, Erythema, Macule, Excessive wrinkling of palmar skin, Hyp... ORPHA:263534
Cole Disease
Hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615522
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Subcutaneous nodule, Hyperkeratosis ORPHA:2297
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Erythema OMIM:617571
Epidermolysis Bullosa Simplex, Localized
Milia, Hyperkeratosis OMIM:131800
Familial Benign Chronic Pemphigus
Acantholysis, Skin erosion, Hyperkeratosis, Erythema, Skin vesicle ORPHA:2841
Congenital Panfollicular Nevus
Hyperkeratosis, Verrucous papule, Skin nodule ORPHA:139414
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Papule, Palmoplantar keratoderma OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:617525
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Epidermal acanthosis OMIM:615598
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-re... OMIM:148730
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal acanthosis, Erythema OMIM:617526
Lichen Planus Pemphigoides
Hyperkeratosis, Skin vesicle, Hypopigmented streaks ORPHA:254478
Peeling Skin Syndrome 4
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthoke... OMIM:607936
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Palmar hy... ORPHA:79399
Idiopathic Localized Lipodystrophy
Morphea, Scaling skin, Erythema, Hyperpigmentation of the skin, Scleroderma, Hypopigmentation of ... ORPHA:90158
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Elastosis Perforans Serpiginosa
Serpiginous cutaneous lesion, Annular cutaneous lesion, Skin-colored papule, Erythematous papule,... ORPHA:79148
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Hyperkeratosis, Cafe-au-lait spot, Hypopigmented skin pa... OMIM:145250
Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Scaling skin, Epidermal acanthosis, Palmoplantar h... OMIM:113800
Porokeratosis Plantaris Palmaris Et Disseminata
Palmoplantar keratoderma, Generalized hyperkeratosis, Aplasia/Hypoplasia of the skin ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Psoriasis 2
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis OMIM:602723
Pemphigus Foliaceus
Acantholysis, Skin vesicle, Skin erosion, Erythema ORPHA:79481
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Skin nodule ORPHA:199267
Basan Syndrome
Milia, Hyperkeratosis, Epidermal acanthosis OMIM:129200
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Hyperkeratosis, Atrophic scars, Nevus, Hyperpigmentation of the skin, Milia, Aplasi... ORPHA:89838
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Erythematous papule, Spotty hyperpigmentation, Abnormal epidermal morphology ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Atypical scarring of skin, Atrophic scars, Localized skin lesion, Erythematous papu... ORPHA:79410
Dowling-Degos Disease 4
Hypergranulosis, Epidermal acanthosis OMIM:615696
Pemphigus Erythematosus
Skin vesicle, Acantholysis ORPHA:79480
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling skin, Diffuse pa... ORPHA:530838
Anonychia With Flexural Pigmentation
Hyperkeratosis, Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule,... ORPHA:69125
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Hyperkeratosis, Thickened skin ORPHA:1659
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Facial erythema, Erythematous papule, Palmoplantar erythema, Erythematous plaq... ORPHA:64745
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Macule, Multiple cafe-au-lait spots, Hypopigmented skin patch... ORPHA:241
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Ichthyosis, Hyperkeratosis, Erythema, Congenital ichthyosiform erythroderma, Epi... OMIM:613943
Bazex Syndrome
Palmoplantar keratoderma, Acanthosis nigricans, Lip hyperpigmentation, Hyperkeratosis, Scaling sk... ORPHA:166113
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Palmoplantar keratoderma OMIM:616295
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Generalized ichthyosis, Cutis laxa, Scaling skin, Epidermal acanthosi... ORPHA:2269
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmen... ORPHA:79397
Wells Syndrome
Skin vesicle, Edema ORPHA:901
Acrokeratoelastoidosis Of Costa
Hyperkeratosis, Subcutaneous nodule, Acrokeratosis, Papule ORPHA:38
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Verrucous Hemangioma
Hyperkeratotic papule, Skin plaque, Epidermal acanthosis ORPHA:464318
Parana Hard Skin Syndrome
Generalized hyperpigmentation, Thickened skin, Hyperkeratosis ORPHA:2812
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Keratosis Palmoplantaris Striata Iii
Palmoplantar keratoderma OMIM:607654
Palmoplantar Keratoderma, Nonepidermolytic
Nonepidermolytic palmoplantar hyperkeratosis OMIM:600962
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
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Skin plaque, Excessive skin wrinkling on... ORPHA:498359
Bathing Suit Ichthyosis
Ichthyosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Thickened skin, Congenital nonbull... ORPHA:100976
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Skin-colored papule, Hyperkeratosis, Skin plaque, Punctate palmoplantar hyperker... ORPHA:79151
Ulerythema Ophryogenesis
Follicular hyperkeratosis, Papule, Aplasia/Hypoplasia of the skin, Erythema ORPHA:3406
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Subcutaneous nodule, Hypermelanotic macule, Thickened skin ORPHA:79455
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle, Epidermal acanthosis OMIM:613102
Ichthyosis Vulgaris
Ichthyosis, Absent keratohyalin granules, Dry skin OMIM:146700
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
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
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythema OMIM:607602
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmoplantar hyperkeratosis OMIM:212360
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Orthokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Macule, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Dermatitis Herpetiformis
Macule, Skin vesicle, Edema, Erythema ORPHA:1656
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanth... OMIM:133200
Superficial Epidermolytic Ichthyosis
Ichthyosis, Acantholysis, Palmoplantar keratoderma, Thin skin, Erythema ORPHA:455
Acquired Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Papule, Dry skin ORPHA:454
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:409
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis, Scaling skin, Erythema, Dry skin OMIM:614457
Olmsted Syndrome, X-Linked
Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Epidermal acanthosis, Paraker... OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Ichthyosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615022
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Intermittent generalized erythematous papular rash, Annular cutaneous lesion... ORPHA:284426
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Iga Pemphigus
Acantholysis, Skin erosion, Annular cutaneous lesion, Skin plaque, Skin vesicle ORPHA:555905
Abnormality of skin pigmentation, Hyperkeratosis, Dermal atrophy ORPHA:79358
Darier-White Disease
Plantar pits, Acrokeratosis, Acantholysis, Palmar pits, Subungual hyperkeratotic fragments, Hyper... OMIM:124200
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Mal De Meleda
Subungual hyperkeratosis, Hyperkeratosis with erythema, Ichthyosis, Diffuse palmoplantar hyperker... ORPHA:87503
Inflammatory Skin And Bowel Disease, Neonatal, 2
Papule, Dehydration, Edema OMIM:616069
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Atrophic scars, Subcutaneous nodule, Skin plaque, Dermal atrophy, Milia, Papule ORPHA:89843
Amyloidosis, Primary Localized Cutaneous, 1
Cutis laxa, Scaling skin, Dry skin OMIM:105250
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Generalized hyperkeratosis, Palmoplantar keratoderma, Erythema ORPHA:495
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Gilbert Syndrome
Dehydration OMIM:143500
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroder... ORPHA:312
Ichthyosis Hystrix, Curth-Macklin Type
Ichthyosis OMIM:146590
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hyperkeratosis, Skin plaque, Erythema, Hypopigmented skin patches, S... ORPHA:2584
Pityriasis Rubra Pilaris
Hypergranulosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Erythematous plaque, Paraker... OMIM:173200
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Epidermal acanthosis, S... OMIM:148700
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... OMIM:131960
Pachyonychia Congenita 4
Hyperkeratosis, Palmoplantar keratoderma OMIM:615728
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Dermal atrophy, Hypopigmentation of the skin, Diffuse palmoplantar hyperkeratosis OMIM:617294
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratosis, Subcutaneous nodule, Palmoplantar keratoderma ORPHA:2698
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Epidermal hyperkeratosis, Palmoplantar erythema, Hyperpigmentation of t... OMIM:104100
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Scaling skin, Dry skin OMIM:609180
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis, Parakeratosis, Congenital nonbull... OMIM:612281
Lichen Planopilaris
Hyperkeratosis, Dermal atrophy, Hypopigmented skin patches, Papule, Skin ulcer ORPHA:525
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Papule, Skin vesicle, Aplasia/Hypoplasia of the skin ORPHA:257
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Aplasia cutis congenita, Palmoplantar keratoderma, Atrophic sca... ORPHA:79402
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin, Erythema OMIM:194400
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Erythema, Macule... ORPHA:317
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling, Dry skin OMIM:600630
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema OMIM:606545
Hennekam-Beemer Syndrome
Abnormality of skin pigmentation, Irregular hyperpigmentation, Subcutaneous nodule, Erythema, Mac... ORPHA:2135
Pyoderma Gangrenosum
Atrophic scars, Skin vesicle, Papule, Skin ulcer ORPHA:48104
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Porphyria Variegata
Skin erosion, Localized skin lesion, Thickened skin, Hyperpigmentation of the skin, Milia, Skin v... ORPHA:79473
Familial Keratoacanthoma
Hyperkeratosis, Subcutaneous nodule, Papule, Skin ulcer ORPHA:493
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Hypergranulosis, Orthokeratosis, Parakeratosis OMIM:604117
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Striate Palmoplantar Keratoderma
Palmoplantar keratoderma ORPHA:50942
Uv-Sensitive Syndrome 3
Freckling, Dry skin OMIM:614640
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Ichthyosis, Hyperkeratosis, Erythema, Generalized hyperpigme... ORPHA:816
Peeling Skin Syndrome 1
Scaling skin, Erythema OMIM:270300
Vulvovaginal Gingival Syndrome
Parakeratosis, Epidermal acanthosis, Skin erosion, Erythema ORPHA:83453
Chronic Hiccup
Dehydration ORPHA:396
Rare Cutaneous Lupus Erythematosus
Psoriasiform lesion, Intermittent generalized erythematous papular rash, Verrucous papule, Indura... ORPHA:535
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Congenital nonbull... OMIM:604777
Irida Syndrome
Hyperkeratosis, Ichthyosis, Pallor ORPHA:209981
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin, Erythema ORPHA:90157
Erythrokeratodermia Variabilis Et Progressiva 6
Erythematous plaque, Parakeratosis OMIM:618531
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:616029
Focal Palmoplantar And Gingival Keratoderma
Palmoplantar keratoderma, Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkerat... ORPHA:2200
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Congenital ichthyosiform ery... OMIM:242100
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Scaling skin, Dry skin OMIM:257960
Pityriasis Rubra Pilaris
Ichthyosis, Irregular hyperpigmentation, Palmoplantar keratoderma, Subungual hyperkeratosis, Thic... ORPHA:2897
Olmsted Syndrome 2
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis, Parakeratosis, Perioral hyperkera... OMIM:619208
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Aplasia cutis congenita, Skin erosion, Atrophic scars, Milia ORPHA:79411
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis OMIM:131850
Proteus Syndrome
Epidermal nevus, Hyperkeratosis, Nevus, Epidermal acanthosis, Depigmentation/hyperpigmentation of... OMIM:176920
Diarrhea 2, With Microvillus Atrophy
Dehydration OMIM:251850
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Freckling, Hyperkeratosis ORPHA:1573
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Pallor OMIM:268040
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Palmoplantar Keratoderma, Epidermolytic
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... OMIM:144200
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Erythematous papule, Epidermal acanthosis, Hypopigmented skin patches ORPHA:330064
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Cutis laxa, Hyperkeratosis, Ichthyosis OMIM:612379
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Cafe-au-lait spot OMIM:618625
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Papule, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Epidermodysplasia Verruciformis, Susceptibility To, 3
Palmar pits, Epidermal acanthosis OMIM:618267
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Verrucous papule, Serpiginous cutaneous lesion, Annular cutaneous lesion, Hyperkeratosis, Atypica... ORPHA:182
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis ORPHA:505
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation, Purpura, Thin skin, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:743
Lamellar Ichthyosis
Hyperkeratosis, Lack of skin elasticity, Dehydration, Dry skin ORPHA:313
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation, Thin skin, Aplasia/Hypoplasia of the skin, Purpura ORPHA:745
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo, Nevus OMIM:193200
Centrifugal Lipodystrophy
Scaling skin, Erythema ORPHA:90156
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Parakeratosis OMIM:615821
Reticular Dysgenesis
Dehydration, Skin ulcer ORPHA:33355
Pemphigus Vulgaris
Atypical scarring of skin, Acantholysis ORPHA:704
Leopard Syndrome 3
Few cafe-au-lait spots, Hyperkeratosis, Epidermal hyperkeratosis, Numerous nevi, Multiple lentigi... OMIM:613707
Chilblain Lupus
Hyperkeratosis, Erythematous papule, Skin ulcer ORPHA:90280
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Hyperkeratosis, Ocular albi... ORPHA:79431
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Dermal atrophy, Hyperpigmentation of the skin, Hypopigmentation of... ORPHA:90342
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Pallor, Hypopigmentation of the skin ORPHA:2786
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Familial Cold Urticaria
Dehydration, Erythema ORPHA:47045
Autosomal Dominant Hyper-Ige Syndrome
Papule, Skin vesicle, Skin ulcer ORPHA:2314
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Hypotrichosis 6
Follicular hyperkeratosis, Erythema OMIM:607903
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Dyskeratosis Congenita
Premature graying of hair, Palmoplantar keratoderma, White hair, Macule, Aplasia/Hypoplasia of th... ORPHA:1775
Flynn-Aird Syndrome
Dermal atrophy, Hyperkeratosis OMIM:136300
Ichthyosis, Hystrix-Like, With Deafness
Hyperkeratosis, Ichthyosis, Scarring alopecia of scalp, Palmoplantar keratoderma OMIM:602540
Ichthyosis With Confetti
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:609165
Pulmonary Blastoma
Weight loss ORPHA:64741
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Dry skin OMIM:607626
Sweet Syndrome
Erythematous papule, Pyoderma gangrenosum, Erythematous plaque, Skin vesicle, Skin nodule ORPHA:3243
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Epidermal acanthosis, Paraker... OMIM:242300
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Follicular hyperkeratosis, Scaling skin, Dry skin OMIM:308205
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Dehydration, Edema, Hypoalbuminemia, Abnormal circulating protein conc... ORPHA:103910
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Epidermolytic Palmoplantar Keratoderma
Localized epidermolytic hyperkeratosis, Palmoplantar keratoderma, Erythema ORPHA:2199
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma OMIM:613576
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Weight loss ORPHA:3389
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, N... ORPHA:79435
Enteric Anendocrinosis
Dehydration ORPHA:83620
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis, Reticular hyperpigmentation OMIM:262020
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Harlequin Ichthyosis
Hyperkeratosis, Dehydration ORPHA:457
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Prolidase Deficiency
Abnormality of retinal pigmentation, Palmoplantar keratoderma, Thin skin, Hyperkeratosis, Erythem... ORPHA:742
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Orthokeratosis, Palmoplantar keratoderma, Acantholysis OMIM:615508
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Weight loss, Ascites, Gastrointestinal hemorrhage ORPHA:2198
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Follicular hyperkeratosis,... OMIM:308800
Familial Melanoma
Freckling, Dry skin, Nevus ORPHA:618
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Reduced ejection fraction, Arrhythmia, Increased serum interferon-gamma level, Abnorma... ORPHA:542323
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Scaling skin, Dry skin OMIM:618419
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Skin rash, Pruritus, Palmoplantar pustulosis, Weight loss, Edema, Elevated circulating C-reactive... ORPHA:324964
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Aplasia cutis congenita, Skin erosion OMIM:609638
Porphyria Cutanea Tarda
Scaling skin, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:101330
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis ORPHA:300179
Immunodeficiency 58
Psoriasiform lesion, Atrophic scars, Ichthyosis, Scaling skin OMIM:618131
Ramon Syndrome
Hyperkeratosis, Abnormality of retinal pigmentation ORPHA:3019
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Skin vesicle, Erythema, Macule, Petechiae, Depigmentation/hyperpigmentation of skin ORPHA:324625
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Central Diabetes Insipidus
Dehydration ORPHA:178029
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation, Papule, Skin nodule ORPHA:53296
Isovaleric Acidemia
Dehydration OMIM:243500
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Eosinophilic Gastroenteritis
Atopic dermatitis, Hematochezia, Leukocytosis, Weight loss, Edema, Hypoalbuminemia, Anemia, Eleva... ORPHA:2070
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis OMIM:607655
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Hyperkeratosis, Skin ulcer ORPHA:1806
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Weight loss, Splenomegaly ORPHA:86893
Lipoid Proteinosis
Hyperkeratosis, Subcutaneous nodule, Papule, Thickened skin ORPHA:530
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Palmoplantar keratoderma, Premature graying of hair, Aplasia/Hy... ORPHA:1979
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Skin ulcer, Hypopigmented skin patches ORPHA:220402
Fixed Drug Eruption
Skin erosion, Erythema, Hyperpigmentation of the skin, Erythematous plaque, Skin detachment ORPHA:293812
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Graft Versus Host Disease
Lichenoid skin lesion, Scaling skin, Skin erosion, Cutaneous sclerotic plaque ORPHA:39812
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Increa... OMIM:209950
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis, Multiple cafe-au-lait spots ORPHA:1809
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Hypermelanotic macule OMIM:609056
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation ORPHA:2222
Chronic Graft Versus Host Disease
Abnormality of skin pigmentation, Intermittent generalized erythematous papular rash, Morphea, Er... ORPHA:99921
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Generalized Pseudohypoaldosteronism Type 1
Pustule, Arrhythmia, Atopic dermatitis, Hyponatremia, Increased circulating renin level, Weight l... ORPHA:171876
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Pachyonychia Congenita 3
Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis, Epidermo... OMIM:615726
Focal Facial Dermal Dysplasia Type Iv
Nevus, Abnormal epidermal morphology ORPHA:398189
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Subcutaneous nodule, Nevus,... ORPHA:626
Psoriasis 14, Pustular
Parakeratosis, Epidermal acanthosis, Erythema OMIM:614204
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperkeratosis, Hyperpigmentation of the skin OMIM:615355
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Pachyonychia Congenita
Palmoplantar keratoderma, Eruptive vellus hair cyst, Palmar hyperkeratosis, Follicular hyperkerat... ORPHA:2309
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hydrops fetalis, Lymphedema, Decreased cir... ORPHA:90362
Hodgkin Lymphoma
Pruritus, Weight loss, Splenomegaly ORPHA:98293
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Death in infancy, Cachexia, Arrhythmia ORPHA:157973
Odontoonychodermal Dysplasia
Hypergranulosis, Erythema, Epidermal acanthosis, Plantar hyperkeratosis, Orthokeratosis, Dry skin OMIM:257980
Rhabdoid Tumor
Internal hemorrhage, Hypertension, Weight loss, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Olmsted Syndrome 1
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:614594
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal acanthosis, Dry skin OMIM:617388
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Netherton Syndrome
Dehydration, Dry skin ORPHA:634
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Verrucous papule ORPHA:2611
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin OMIM:606367
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Increased circulating antibody level, Abnormal macrophage morphology, Weight loss, Pancytopenia, ... ORPHA:507
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle, Palpebral edema ORPHA:99843
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Inflammatory abnormality... ORPHA:398063
Bacterial Toxic-Shock Syndrome
Localized skin lesion, Scaling skin, Ecchymosis ORPHA:36234
Huntington Disease-Like 2
Weight loss ORPHA:98934
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Vitiligo OMIM:614700
Costello Syndrome
Acanthosis nigricans, Hyperkeratosis, Redundant skin, Generalized hyperpigmentation, Lack of skin... ORPHA:3071
Follicular Lymphoma
Lymphedema, Pleural effusion, Weight loss, Splenomegaly ORPHA:545
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Thin skin, Hyperkeratosis, Dry... ORPHA:238468
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Subcutaneous nodule, Scaling skin, Thickened skin, Skin ulce... ORPHA:2526
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration OMIM:560000
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Hypertension, Weight loss, Elevated circulating C-reactive prot... ORPHA:767
Juvenile Huntington Disease
Cerebellar atrophy, Cerebellar vermis atrophy, Weight loss ORPHA:248111
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Takayasu Arteritis
Hypertensive crisis, Hypertension, Weight loss, Myocardial infarction, Cerebral ischemia, Anemia,... ORPHA:3287
Meige Disease
Skin erosion, Atypical scarring of skin, Skin dimple, Cobblestone-like hyperkeratosis, Skin ulcer ORPHA:90186
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... ORPHA:330001
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Dry skin ORPHA:486815
Galactose Epimerase Deficiency
Weight loss, Splenomegaly ORPHA:79238
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Orthokeratosis OMIM:617337
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Pruritus, Gastrointestinal hemorrhage, Hypotension, Leu... ORPHA:98850
Rheumatoid Arthritis
Vasculitis, Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Ectodermal Dysplasia-Skin Fragility Syndrome
Follicular hyperkeratosis, Scaling skin, Palmoplantar keratoderma ORPHA:158668
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion ORPHA:169154
Pleural Mesothelioma
Pleural effusion, Abnormal cardiovascular system physiology, Weight loss ORPHA:50251
Beta-Ketothiolase Deficiency
Dehydration, Edema, Pallor ORPHA:134
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Gastrointestinal hemorrhage, Peripheral edema, We... ORPHA:2494
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration OMIM:208085
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Thin skin ORPHA:1810
Propionic Acidemia
Dehydration OMIM:606054
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Neutropenia, Weight loss, Thrombocytopenia, Agammaglobulinemia, Recurren... ORPHA:47
Xeroderma Pigmentosum
Freckling, Thin skin, Hyperkeratosis, Melanocytic nevus, Erythema, Dermal atrophy, Macule, Hypopi... ORPHA:910
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Weight loss ORPHA:85447
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation OMIM:616353
Parkes Weber Syndrome
Scaling skin, Erythematous plaque, Skin ulcer, Capillary malformation ORPHA:90307
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Donohue Syndrome
Hyperkeratosis, Hypermelanotic macule, Acanthosis nigricans OMIM:246200
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Reticular hyperpigmentation, Generalized reticulate brown pigmentation OMIM:301220
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Juvenile Dermatomyositis
Skin rash, Pruritus, Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, ... ORPHA:93672
Isaac Syndrome
Weight loss ORPHA:84142
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Weight loss, Failure to thrive, Anemia, Hypertrophic cardiomyopathy ORPHA:1842
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Weight loss,... ORPHA:77297
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy, Cachexia, Death in early adulthood ORPHA:85278
Netherton Syndrome
Hypernatremic dehydration, Angioedema, Parakeratosis OMIM:256500
Restrictive Dermopathy
Generalized hyperkeratosis, Dermal translucency, Skin erosion, Scaling skin, Epidermal hyperkerat... ORPHA:1662
Arrhythmia, Dilated cardiomyopathy, Pericarditis, Gastrointestinal hemorrhage, Weight loss, Myoca... ORPHA:732
Trichothiodystrophy 1, Photosensitive
Hyperkeratosis, Freckling, Congenital nonbullous ichthyosiform erythroderma, Dry skin OMIM:601675
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Hypokalemia, Tachycardia, Weight loss OMIM:613239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Hypokalemia, Tachycardia, Weight loss OMIM:188580
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Weight loss ORPHA:90003
Holocarboxylase Synthetase Deficiency
Perioral eczema, Weight loss, Thrombocytopenia, Eczema, Hyperammonemia ORPHA:79242
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Hypotension, Leukocytosis, Pleural effusion, Pedal edema, Weight loss, ... ORPHA:188
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Eosinophi... ORPHA:75565
Dehydration ORPHA:213
Marburg Hemorrhagic Fever
Skin rash, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Weight loss, Thrombocytopenia... ORPHA:99826
Neonatal Inflammatory Skin And Bowel Disease
Scaling skin, Erythema ORPHA:294023
Eosinophilic Fasciitis
Muscular edema, Weight loss, Edema, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Hyperkeratosis, Melanocytic nevus, Ocular albini... ORPHA:79430
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Chronic Mucocutaneous Candidiasis
Hyperkeratosis, Papule, Skin ulcer, Erythema ORPHA:1334
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... ORPHA:85443
Riddle Syndrome
Scaling skin, Erythema ORPHA:420741
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Leukocytosis, Lymphedema, Weight loss, Thrombocytopenia, Abnormal neutro... ORPHA:3226
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis ORPHA:1883
Mulibrey Nanism
Cachexia ORPHA:2576
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Edema, Pallor ORPHA:20
Polycythemia Vera
Pruritus, Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari sy... ORPHA:729
Perifollicular hyperkeratosis OMIM:158000
Classic Hodgkin Lymphoma
Skin rash, Pruritus, Weight loss, Splenomegaly ORPHA:391
Wilson Disease
Pruritus, Joint swelling, Weight loss, Thrombocytopenia, Splenomegaly, Increased body weight, Fai... ORPHA:905
Pten Hamartoma Tumor Syndrome
Hyperkeratotic papule, Papule, Freckling, Plantar pits ORPHA:306498
Neonatal Lupus Erythematosus
Hyperkeratosis, Erythematous plaque, Parakeratosis ORPHA:398124
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Thin skin, Atrophic scars, Cutis laxa, Atypical scarring of skin ORPHA:75496
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
Spinocerebellar Ataxia 48
Cerebellar atrophy, Cachexia OMIM:618093
Follicular hyperkeratosis ORPHA:573
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Arrhythmia, Abnormality of iron homeostasis, Joint ... ORPHA:465508
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Pleural effusion, Weight loss, Pleural empyema, Congesti... ORPHA:67
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Huntington Disease-Like 2
Weight loss OMIM:606438
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis OMIM:615279
Cardiofaciocutaneous Syndrome
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Redundant skin, Multiple cafe-au-lait spots... ORPHA:1340
Mast Cell Sarcoma
Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Yao Syndrome
Skin rash, Pericarditis, Weight loss, Xerostomia, Inflammatory abnormality of the skin OMIM:617321
Wolcott-Rallison Syndrome
Dehydration, Ascites ORPHA:1667
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Popov-Chang syndrome
Hyperkeratosis, Dry skin OMIM:618428
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Weight loss, Increased cir... ORPHA:449400
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Diffuse Cutaneous Mastocytosis
Abnormality of skin pigmentation, Thickened skin ORPHA:79456
Xfe Progeroid Syndrome
Ascites, Cachexia, Hypertension OMIM:610965
Kaposi Sarcoma
Lymphedema, Skin rash, Abnormality of the spleen, Weight loss ORPHA:33276
Bullous Pemphigoid
Eczema, Psoriasiform dermatitis, Weight loss ORPHA:703
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Rat-Bite Fever
Scaling skin ORPHA:31205
Peripheral Primitive Neuroectodermal Tumor
Pruritus, Elevated alpha-fetoprotein, Weight loss, Ascites, Anemia, Abnormal superior cerebellar ... ORPHA:370348
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Dry skin OMIM:614576
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Yellow Fever
Dehydration ORPHA:99829
Dehydration ORPHA:1549
Werner Syndrome
Abnormality of retinal pigmentation, Premature graying of hair, Hyperkeratosis, White forelock, A... ORPHA:902
Thymic Carcinoma
Edema, Weight loss, Palpebral edema ORPHA:99868
Kindler Epidermolysis Bullosa
Abnormality of skin pigmentation, Palmoplantar keratoderma, Hyperkeratosis, Atypical scarring of ... ORPHA:2908
Renal Hypoplasia
Dehydration ORPHA:93101
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Pericardial effusion, Pleural... ORPHA:2905
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Pruritus, Hypotension, Leukocytosis, Chronic lymphatic leukemia, Weight loss, N... ORPHA:98849
Noonan Syndrome 2
Palmoplantar cutis laxa, Hyperkeratosis, Nevus, Hyperpigmentation of the skin, Cafe-au-lait spot OMIM:605275
Malignant Peritoneal Mesothelioma
Pedal edema, Ascites, Weight loss ORPHA:168811
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Palmoplantar cutis laxa, Dehydration ORPHA:173
Graves Disease, Susceptibility To, 1
Congestive heart failure, Weight loss OMIM:275000
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Familial Thrombocytosis
Pruritus, Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia, Cere... ORPHA:71493
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hyperalaninemia, Anemia, Cachexia, Weight loss ORPHA:298
Naxos Disease
Palmoplantar keratoderma, Epidermal acanthosis, Acantholysis OMIM:601214
Desmoplastic Small Round Cell Tumor
Ascites, Anemia, Cachexia, Weight loss ORPHA:83469
Chronic oral candidiasis, Increased circulating antibody level, Pleural effusion, Weight loss, Ab... ORPHA:723
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Atypical scarring of skin, Dry skin OMIM:601701
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Hyperpigmentation of the skin, Cafe-au-lait spot OMIM:616564
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis OMIM:601812
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Subcutaneous nodule, Cobblestone-like hyperkeratosis, Cutaneous cyst ORPHA:2583
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Anemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Gaucher Disease, Perinatal Lethal
Ichthyosis, Purpura, Hyperkeratosis, Petechiae, Congenital nonbullous ichthyosiform erythroderma OMIM:608013
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hyperkeratosis, Epidermal acanthosis OMIM:612852
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypertonic dehydration OMIM:304800
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Erythroderma, Weight loss, Cardiac arrest, Myocarditis, Angioe... ORPHA:139402
Dend Syndrome
Dehydration ORPHA:79134
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Weight loss, Anemia, P... ORPHA:514
Incontinentia Pigmenti
Abnormality of skin pigmentation, Hyperkeratosis, Pallor, Erythema OMIM:308300
Dehydration, Purpura ORPHA:810
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Weight loss ORPHA:399
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Large vessel vasculitis, Renovascular hypertension, Elevated circu... ORPHA:49041
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Skin ulcer ORPHA:834
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Decreased plasma total carnitine, Cachexia, Elevated circulating creatine kinase conc... ORPHA:42
Huntington Disease-Like 1
Cerebellar atrophy, Weight loss ORPHA:157941
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Alternating Hemiplegia Of Childhood
Dehydration, Pallor ORPHA:2131
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia, Pulmo... ORPHA:90060
Inflammatory Bowel Disease 11
Weight loss, Hematochezia OMIM:191390
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Cerebellar atrophy, Cachexia OMIM:618186
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Recurrent intrapulmonary hemorrhage, Hypertension, Weight loss, Myocardial infarction,... ORPHA:183
Joint swelling, Weight loss ORPHA:668
Castleman Disease
Anasarca, Restrictive cardiomyopathy, Weight loss, Increased circulating interleukin 6, Thrombocy... ORPHA:160
Wolman Disease
Bone-marrow foam cells, Splenomegaly, Ascites, Cachexia, Anemia ORPHA:75233
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Weight loss ORPHA:65682
Pfapa Syndrome
Weight loss, Splenomegaly ORPHA:42642
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Subcutaneous nodule, Papule ORPHA:79280
Incontinentia Pigmenti
Abnormality of skin pigmentation, Irregular hyperpigmentation, Hyperkeratosis, Erythema, Hypopigm... ORPHA:464
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hyperkeratosis, Parakeratosis, Congenital ichthyosiform erythroderma, Erythema OMIM:308050
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Weight loss, Abnormal atriovent... ORPHA:3208
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Pruritus, Vacuolated lymphocytes, Hypovolemia, Hypo... ORPHA:275761
Sialidosis Type 1
Hyperkeratosis ORPHA:812
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hematochezia, Xerostomia, Hypokalemia, Cachexia, Anemia, Hypomagnesemia OMIM:175500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Eczematoid dermatitis, Neutropenia, Abnormal blood ion ... ORPHA:37042
Dehydration, Ascites, Erythema ORPHA:97282
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Cache... ORPHA:824
Q Fever
Pericarditis, Increased circulating antibody level, Pericardial effusion, Pleural effusion, Abnor... ORPHA:781
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis ORPHA:1302
Multiple Myeloma
Decreased circulating antibody level, Elevated circulating creatinine concentration, Pleural effu... ORPHA:29073
Riboflavin Transporter Deficiency
Cachexia, Hypertension ORPHA:97229
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Pedal edema, Hyponatremia, Myocardial inf... ORPHA:3452
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933