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Gene: Krt1 MGI:96698

Registered for phenotyping at IMPC

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

Gene Summary

Name:

keratin 1

Synonyms:

Krt-2.1, Krt2-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Krt1 (10 diseases)
Human diseases predicted to be associated with Krt1 (781 diseases)

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

Disease	Matching phenotypes	Source
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform...	OMIM:113800
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Palm...	ORPHA:530838
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic palmoplantar hyperkeratosis	OMIM:600962
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato...	ORPHA:2199
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder...	ORPHA:312
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis	ORPHA:79503
Keratosis Palmoplantaris Striata Iii	Palmoplantar keratoderma	OMIM:607654
Striate Palmoplantar Keratoderma	Palmoplantar keratoderma	ORPHA:50942

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

Disease	Matching phenotypes	Source
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Papule	ORPHA:1336
Acrokeratosis Verruciformis	Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hype...	OMIM:101900
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Thickened skin, Plantar pits, Abnormality of skin p...	ORPHA:218
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation, Hyperkeratosis, Papule	ORPHA:315
Acral Peeling Skin Syndrome	Macule, Erythema, Papule, Scaling skin, Ichthyosis, Skin erosion, Hyperpigmentation of the skin, ...	ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht...	OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Insulin-Resistance Syndrome Type A	Subcutaneous nodule, Hyperkeratosis, Generalized hyperpigmentation	ORPHA:2297
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Erythema m...	ORPHA:158681
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Milia	OMIM:131800
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Papule	OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Dowling-Degos Disease	Hypopigmented macule, Inguinal freckling, Epidermoid cyst, Mixed hypo- and hyperpigmentation of t...	ORPHA:79145
Dowling-Degos Disease 4	Papule, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali...	OMIM:607602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hyperkeratotic...	ORPHA:737
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Skin plaque	ORPHA:464318
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spo...	ORPHA:79399
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke...	OMIM:607936
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Hypopigmented streaks	ORPHA:254478
Idiopathic Localized Lipodystrophy	Erythema, Scaling skin, Scleroderma, Morphea, Hypopigmentation of the skin, Hyperpigmentation of ...	ORPHA:90158
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Skin-colored papule, Cutis laxa, Hyperkeratotic papule, Erythematous papule...	ORPHA:79148
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,...	OMIM:145250
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform...	OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Congenital Panfollicular Nevus	Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Infantile Digital Fibromatosis	Skin nodule, Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Psoriasis 2	Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin	OMIM:602723
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Hyperkeratosis, Porokeratosis	ORPHA:735
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Aplasia cutis congenita on trunk or limbs, Palmoplantar hyperkeratosis, Hyperkeratosis, Atrophic ...	ORPHA:89838
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy...	OMIM:612281
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Palm...	ORPHA:530838
Lupus Erythematosus Tumidus	Urticarial plaque, Depigmentation/hyperpigmentation of skin, Erythematous plaque, Annular cutaneo...	ORPHA:90283
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Honeycomb palmop...	ORPHA:79395
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Hyperkeratosis, Hypermelanotic macule,...	ORPHA:69125
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplanta...	ORPHA:64745
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Dyschromatosis Universalis Hereditaria	Macule, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe...	ORPHA:241
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Dry skin, Scaling skin	OMIM:618084
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Abnormal epidermal morphology, Erythema, Periauricular skin pits...	ORPHA:79100
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Bazex Syndrome	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans, Lip ...	ORPHA:166113
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hype...	ORPHA:38
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Ret...	ORPHA:79397
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expressi...	OMIM:247100
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Familial Reactive Perforating Collagenosis	Erythematous papule, Abnormal epidermal morphology, Hyperkeratotic papule, Spotty hyperpigmentation	ORPHA:79147
Pemphigus Foliaceus	Acantholysis, Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesi...	ORPHA:79481
Cutaneous Mastocytoma	Macule, Hypermelanotic macule, Hyperpigmented papule, Thickened skin, Skin nodule, Erythema, Eryt...	ORPHA:79455
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hyperpigmentation	ORPHA:2812
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Bathing Suit Ichthyosis	Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar sc...	ORPHA:100976
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic palmoplantar hyperkeratosis	OMIM:600962
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Atrophic sca...	ORPHA:79410
Ulerythema Ophryogenesis	Erythematous papule, Hyperkeratotic papule, Facial erythema, Dermal atrophy, Follicular hyperkera...	ORPHA:3406
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic hyperkeratosis, Palmoplan...	ORPHA:498359
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthok...	OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Mal De Meleda	Epidermal acanthosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:87503
Cole Disease	Hypopigmented macule, Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis...	OMIM:615522
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macule, Scaling skin, Freckling, D...	OMIM:618373
Wells Syndrome	Skin vesicle, Edema	ORPHA:901
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Acrokeratosis	OMIM:620199
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate...	ORPHA:79151
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule	ORPHA:90000
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Pemphigoid Gestationis	Skin vesicle	ORPHA:63275
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	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 Vulgaris	Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Superficial Epidermolytic Ichthyosis	Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Amyloidosis, Primary Localized Cutaneous, 3	Hypopigmented macule, Generalized hyperpigmentation, Dry skin, Hypermelanotic macule	OMIM:617920
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Macule, Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Dermatitis Herpetiformis	Macule, Skin vesicle, Erythema, Edema	ORPHA:1656
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato...	ORPHA:2199
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Epidermal acanth...	OMIM:133200
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling...	OMIM:616295
Acquired Ichthyosis	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin, Papule	ORPHA:454
Iga Pemphigus	Acantholysis, Annular cutaneous lesion, Skin vesicle, Skin erosion, Skin plaque	ORPHA:555905
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Epidermal acanthosis, Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyp...	ORPHA:2269
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Atrophic scars	OMIM:131850
Darier-White Disease	Hypermelanotic macule, Acrokeratosis, Acantholysis, Palmar pits, Plantar pits, Subungual hyperker...	OMIM:124200
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Basan Syndrome	Milia, Palmoplantar keratoderma, Epidermal acanthosis, Hypermelanotic macule	OMIM:129200
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper...	OMIM:300918
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis	OMIM:615022
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis, Psoriasiform lesion, Intermittent generalized erythematous papular rash, Erythemat...	ORPHA:284426
Dystrophic Epidermolysis Bullosa Pruriginosa	Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule	ORPHA:89843
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat...	OMIM:173200
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Acute Generalized Exanthematous Pustulosis	Acantholysis, Scaling skin, Skin vesicle, Hyperpigmentation of the skin, Purpura	ORPHA:293173
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder...	ORPHA:312
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Ichthyosis With Confetti	Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Icht...	OMIM:609165
Classic Mycosis Fungoides	Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyperkeratosis, Irregular hyperpig...	ORPHA:2584
Acute Radiation Syndrome	Skin ulcer, Hyperkeratosis, Scaling skin, Dermal atrophy, Hypopigmentation of the skin, Hyperpigm...	ORPHA:454831
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis	ORPHA:79503
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin, Dermal atrophy	OMIM:617294
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis...	OMIM:148700
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Atrophic scars, Palmoplantar kerato...	ORPHA:79402
Lichen Planopilaris	Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule	ORPHA:525
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin	ORPHA:90368
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Epidermal hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema...	OMIM:104100
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule	ORPHA:257
Erythrokeratodermia Variabilis	Macule, Hypermelanotic macule, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Irre...	ORPHA:317
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Porphyria Variegata	Thickened skin, Localized skin lesion, Skin vesicle, Skin erosion, Hypopigmentation of the skin, ...	ORPHA:79473
Proteus Syndrome	Epidermal nevus, Epidermal acanthosis, Depigmentation/hyperpigmentation of skin, Hyperkeratosis, ...	OMIM:176920
Uv-Sensitive Syndrome 1	Freckling, Dry skin, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Pyoderma Gangrenosum	Skin vesicle, Atrophic scars, Papule, Skin ulcer	ORPHA:48104
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Mottle...	OMIM:131960
Hennekam-Beemer Syndrome	Macule, Generalized hyperpigmentation, Thickened skin, Erythema, Subcutaneous nodule, Abnormality...	ORPHA:2135
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Striate Palmoplantar Keratoderma	Palmoplantar keratoderma	ORPHA:50942
Keratosis Palmoplantaris Striata Iii	Palmoplantar keratoderma	OMIM:607654
Uv-Sensitive Syndrome 3	Freckling, Dry skin	OMIM:614640
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Familial Keratoacanthoma	Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer	ORPHA:493
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Hyperkeratosis, Ich...	ORPHA:816
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Chronic Hiccup	Dehydration	ORPHA:396
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis	OMIM:610227
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Papule, Dehydration	OMIM:616069
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Palmoplantar hyperkeratosis	OMIM:604536
Warty Dyskeratoma	Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localized skin lesion, Epid...	ORPHA:69745
Vulvovaginal Gingival Syndrome	Skin erosion, Parakeratosis, Erythema, Epidermal acanthosis	ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Erythematous plaque	OMIM:618531
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Drug-Induced Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Thickened skin, Palmoplantar keratoderma, Ichthyosis, Irregular hyperpi...	ORPHA:2897
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk...	OMIM:619208
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis, Freckling, Melanocytic nevus	ORPHA:1573
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis, Annular cutaneous lesion, Psoriasiform lesion, Dermal atrophy	ORPHA:163525
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Generalized ichthyosis, Follicular hyperkeratosis, Hyperpigmentation of the...	OMIM:608649
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Subcutaneous nodule	OMIM:618339
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis, Cafe-au-lait spot	OMIM:618625
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin	OMIM:609180
Diffuse Cutaneous Mastocytosis	Thickened skin, Skin erosion, Scaling skin, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Erythematous papule, Epidermal acanthosis, Hypopigmented skin patches	ORPHA:330064
Ichthyosis, Hystrix-Like, With Deafness	Scarring alopecia of scalp, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperke...	OMIM:602540
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Lamellar Ichthyosis	Hyperkeratosis, Dry skin, Lack of skin elasticity, Dehydration	ORPHA:313
Chromomycosis	Erythematous macule, Hyperparakeratosis, Subcutaneous nodule, Hypopigmented skin patches, Verruco...	ORPHA:182
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Papule, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Reticular Dysgenesis	Skin ulcer, Dehydration	ORPHA:33355
Pemphigus Vulgaris	Atypical scarring of skin, Acantholysis	ORPHA:704
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Nevus, Vitiligo	OMIM:193200
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythr...	OMIM:242300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P...	OMIM:605676
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Leopard Syndrome 3	Few cafe-au-lait spots, Numerous nevi, Epidermal hyperkeratosis, Hyperkeratosis, Multiple lentigi...	OMIM:613707
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Skin ulcer, Abnormality of skin pigmentation, Thin skin, Purpura	ORPHA:743
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation, Aplasia/Hypoplasia of the skin, Thin skin, Purpura	ORPHA:745
Ichthyosis, Congenital, Autosomal Recessive 2	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro...	OMIM:242100
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Dermal atrophy, Dry skin, Hypopigmentation of the skin, Hyperpigme...	ORPHA:90342
Chilblain Lupus	Hyperkeratosis, Erythematous papule, Skin ulcer	ORPHA:90280
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Dyskeratosis Congenita	Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, White hair, Hypopigmented skin pat...	ORPHA:1775
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism	ORPHA:2786
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H...	ORPHA:79431
Centrifugal Lipodystrophy	Erythema, Scaling skin	ORPHA:90156
Familial Cold Urticaria	Erythema, Dehydration	ORPHA:47045
Autosomal Dominant Hyper-Ige Syndrome	Skin vesicle, Papule, Skin ulcer	ORPHA:2314
Congenital Disorder Of Glycosylation, Type Iq	Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:612379
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Mpdu1-Cdg	Erythematous plaque, Scaling skin, Ichthyosis	ORPHA:79323
Hidrotic Ectodermal Dysplasia	Hypopigmentation of hair, Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkera...	ORPHA:189
Hypotrichosis 6	Erythema, Follicular hyperkeratosis	OMIM:607903
Flynn-Aird Syndrome	Hyperkeratosis, Dermal atrophy	OMIM:136300
Vitamin B12-Responsive Methylmalonic Acidemia	Dehydration	ORPHA:28
Pulmonary Blastoma	Weight loss	ORPHA:64741
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Peeling Skin Syndrome 1	Scaling skin	OMIM:270300
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Abnormality of skin pigmentation, Atrophic scars, Palmoplantar keratoderma, Aplasia...	ORPHA:79411
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Dry skin	OMIM:224750
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Sweet Syndrome	Skin nodule, Pyoderma gangrenosum, Erythematous plaque, Skin vesicle, Erythematous papule	ORPHA:3243
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Facial erythema, Palmoplantar keratoderma, Scaling skin, Skin fissure, Dry skin, Sclerodactyly	ORPHA:1010
Combined Malonic And Methylmalonic Acidemia	Dehydration	ORPHA:289504
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Ascites, Palmoplantar keratoderma, Weight loss	ORPHA:2198
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Combined Oxidative Phosphorylation Deficiency 47	Dehydration	OMIM:618958
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Harlequin Ichthyosis	Hyperkeratosis, Dehydration	ORPHA:457
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Tachycardia, Skin rash, Heart block, Elevated ...	ORPHA:542323
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:616029
Tuberculosis	Weight loss	ORPHA:3389
Prolidase Deficiency	Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Erythema, Skin ulcer, Hyperk...	ORPHA:742
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, White ha...	ORPHA:79435
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Verrucous papule, Palmoplan...	ORPHA:79501
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Erythematous plaque, Scaling skin, Ichthyosis	ORPHA:35173
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Blue nevus, Absent skin pigmentation, Blue irides, Red...	ORPHA:79433
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Scarring alopecia of scalp, Facial erythema, Palmoplantar keratoderma, Follicular hyperkeratosis,...	OMIM:308800
Central Diabetes Insipidus	Dehydration	ORPHA:178029
Epidermolysis Bullosa, Lethal Acantholytic	Skin erosion, Aplasia cutis congenita, Acantholysis	OMIM:609638
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Familial Melanoma	Freckling, Dry skin, Nevus	ORPHA:618
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss	ORPHA:100083
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia	ORPHA:100024
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Follicular hyperkeratosis	ORPHA:300179
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Edema, Elevated circulating C-reactive protein concentr...	ORPHA:324964
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation, Skin nodule, Papule	ORPHA:53296
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Kid Syndrome	Epidermal acanthosis, Scarring alopecia of scalp, Skin nodule, Congenital ichthyosiform erythrode...	ORPHA:477
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Eosinophilic Gastroenteritis	Eosinophilia, Edema, Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic ...	ORPHA:2070
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Isovaleric Acidemia	Dehydration	OMIM:243500
Ramon Syndrome	Hyperkeratosis, Abnormality of retinal pigmentation	ORPHA:3019
Fixed Drug Eruption	Erythema, Erythematous plaque, Skin erosion, Skin detachment, Hyperpigmentation of the skin	ORPHA:293812
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of skin pigmentation, Hyperkeratosis, Skin ulcer	ORPHA:1806
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Chikungunya	Macule, Erythema, Depigmentation/hyperpigmentation of skin, Skin vesicle, Petechiae	ORPHA:324625
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Hidrotic Ectodermal Dysplasia, Halal Type	Multiple cafe-au-lait spots, Follicular hyperkeratosis	ORPHA:1809
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Scaling skin, Hyperpigmentation of the skin	ORPHA:101330
Recon Progeroid Syndrome	Dry skin, Scaling skin, Thin skin	OMIM:620370
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Immunodeficiency 58	Atrophic scars, Psoriasiform lesion, Scaling skin, Ichthyosis	OMIM:618131
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Aplasia/Hypoplasia of the skin, Thickened skin, Lack of skin elasticity, Abnormality of skin pigm...	ORPHA:1979
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Splenomegaly, Weight loss	ORPHA:86893
Lipoid Proteinosis	Hyperkeratosis, Thickened skin, Subcutaneous nodule, Papule	ORPHA:530
Cerebrooculofacioskeletal Syndrome 1	Dehydration	OMIM:214150
Pachyonychia Congenita	Epidermoid cyst, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratode...	ORPHA:2309
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increased circulating IgG level, Inc...	OMIM:209950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dehydration	ORPHA:79312
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Lymphopenia, Hypoproteinemia, Edema, Pericardial effusion, Decre...	ORPHA:90362
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:181600
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:615225
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation	ORPHA:2222
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Pustule, Hyperkalemia, Atopic dermatitis, Dehydration...	ORPHA:171876
Chronic Graft Versus Host Disease	Thickened skin, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer, Abnorma...	ORPHA:99921
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ...	ORPHA:69087
Graft Versus Host Disease	Skin erosion, Scaling skin, Cutaneous sclerotic plaque, Lichenoid skin lesion	ORPHA:39812
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p...	OMIM:193510
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Noonan Syndrome 8	Palmoplantar cutis laxa, Hyperkeratosis, Hyperpigmentation of the skin	OMIM:615355
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Subcutaneous nodule, Hypopigmented skin patches, Abnormality ...	ORPHA:626
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, Melanocy...	ORPHA:79434
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration	OMIM:610600
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Dehydration	OMIM:264350
Corticosterone Methyloxidase Type I Deficiency	Dehydration	OMIM:203400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis	OMIM:615508
Carnitine Deficiency, Systemic Primary	Dehydration	OMIM:212140
Netherton Syndrome	Dry skin, Dehydration	ORPHA:634
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Nevus	ORPHA:398189
Psoriasis 14, Pustular	Parakeratosis, Erythema, Epidermal acanthosis	OMIM:614204
Congenital Muscular Dystrophy Due To Lmna Mutation	Death in infancy, Arrhythmia, Congestive heart failure, Cachexia	ORPHA:157973
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle, Palpebral edema	ORPHA:99843
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Incr...	ORPHA:507
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Rhabdoid Tumor	Hypercalcemia, Weight loss, Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Follicular Lymphoma	Splenomegaly, Pleural effusion, Weight loss, Lymphedema	ORPHA:545
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Palmoplantar hyperkerato...	OMIM:257980
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Verrucous papule	ORPHA:2611
Costello Syndrome	Generalized hyperpigmentation, Redundant skin, Lack of skin elasticity, Hyperkeratosis, Acanthosi...	ORPHA:3071
Autosomal Agammaglobulinemia	Dehydration	ORPHA:33110
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Propionic Acidemia	Dehydration	OMIM:606054
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus...	ORPHA:98850
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Dehydration	OMIM:560000
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Thin skin, Generalized hypopigmentation of hair, Irregular hyperpigmentation, Dry...	ORPHA:238468
Juvenile Huntington Disease	Cerebellar atrophy, Cerebellar vermis atrophy, Weight loss	ORPHA:248111
Takayasu Arteritis	Hypertensive crisis, Myocardial infarction, Vasculitis, Weight loss, Hypertension, Cerebral ische...	ORPHA:3287
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Naxos Disease	Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis...	OMIM:601214
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l...	ORPHA:767
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Weight loss, Hypertro...	ORPHA:330001
Pleural Mesothelioma	Pleural effusion, Abnormal cardiovascular system physiology, Weight loss	ORPHA:50251
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Epidermal acanthosis, Ichthyosis, Orthokeratosis, Dry skin	OMIM:607626
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis	ORPHA:158668
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin	OMIM:606367
Rheumatoid Arthritis	Joint swelling, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss	ORPHA:85447
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormality of retinal pigmentation, Thickened skin, Subcutaneous nodule, Skin ulcer, Scaling ski...	ORPHA:2526
Early-Onset Familial Hypoaldosteronism	Dehydration	ORPHA:556030
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoal...	ORPHA:2494
Bacterial Toxic-Shock Syndrome	Ecchymosis, Localized skin lesion, Scaling skin	ORPHA:36234
Meige Disease	Skin ulcer, Atypical scarring of skin, Skin dimple, Cobblestone-like hyperkeratosis, Skin erosion	ORPHA:90186
Beta-Ketothiolase Deficiency	Pallor, Edema, Dehydration	ORPHA:134
Immunodeficiency, Common Variable, 8, With Autoimmunity	Psoriasiform lesion, Vitiligo	OMIM:614700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Reticular hyperpigmentation, Hyperkeratosis, Palmoplantar keratoderma, De...	OMIM:604173
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Skin rash, Weight loss, Anemia, Agammaglobulinemia, Hypoca...	ORPHA:47
Familial Thrombocytosis	Acute myeloid leukemia, Miscarriage, Transient ischemic attack, Pruritus, Splenomegaly, Chronic m...	ORPHA:71493
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:94080
Majeed Syndrome	Inflammatory abnormality of the skin, Acne, Edema, Congenital hypoplastic anemia, Pustule, Spleno...	ORPHA:77297
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Thin skin	ORPHA:1810
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Reticular hyperpigmentation, Generalized reticulate brown pigmentation	OMIM:301220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion	ORPHA:169154
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Dry skin, Ichthyosis	OMIM:610768
Chronic Mucocutaneous Candidiasis	Papule, Hyperkeratosis, Erythema, Skin ulcer	ORPHA:1334
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Dehydration, Oligohydramnios	OMIM:208085
Cystinosis	Dehydration	ORPHA:213
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Dehydration	OMIM:251000
Xeroderma Pigmentosum	Macule, Hypermelanotic macule, Thickened skin, Erythema, Hypopigmented skin patches, Melanocytic ...	ORPHA:910
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-...	ORPHA:85443
Isaacs Syndrome	Weight loss	ORPHA:84142
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Calcinosis, Skin rash, Palpebral ...	ORPHA:93672
Christianson Syndrome	Aplasia/Hypoplasia of the cerebellum, Death in early adulthood, Cerebellar atrophy, Cachexia	ORPHA:85278
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Weight loss, Hypotension, Arrhythmia, Pleur...	ORPHA:188
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Hypermelanotic macule	OMIM:246200
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive, Anemia	ORPHA:1842
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations, Weight loss	OMIM:188580
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema	ORPHA:3165
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Holocarboxylase Synthetase Deficiency	Eczema, Hyperammonemia, Weight loss, Thrombocytopenia, Perioral eczema	ORPHA:79242
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration	OMIM:615453
Alexander Disease Type I	Cerebellar atrophy, Failure to thrive, Cachexia	ORPHA:363717
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Dehydration, Oligohydramnios	OMIM:263200
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency, Freckling, Epidermal hyperkeratosis	OMIM:137940
Parkes Weber Syndrome	Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer	ORPHA:90307
Secondary Short Bowel Syndrome	Dehydration	ORPHA:95427
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Spinocerebellar Ataxia 48	Cerebellar atrophy, Cachexia	OMIM:618093
Werner Syndrome	Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Ski...	ORPHA:902
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial h...	ORPHA:3226
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Dry skin, Freckling, Congenital nonbullous ichthyosiform erythroderma	OMIM:601675
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Restrictive Dermopathy	Epidermal hyperkeratosis, Scaling skin, Dermal atrophy, Skin erosion, Generalized hyperkeratosis,...	ORPHA:1662
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Thickened skin, Ocular albinism, Melanocytic nevus, H...	ORPHA:79430
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Skin ulcer, Iris hypopigmentation	ORPHA:834
3-Hydroxy-3-Methylglutaric Aciduria	Pallor, Edema, Dehydration	ORPHA:20
Wolcott-Rallison Syndrome	Ascites, Dehydration	ORPHA:1667
Classic Hodgkin Lymphoma	Pruritus, Splenomegaly, Skin rash, Weight loss	ORPHA:391
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Failure to thrive, Chilblains, Edema, Portal hypertension, Perica...	OMIM:619487
Peripheral Primitive Neuroectodermal Tumor	Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Pruri...	ORPHA:370348
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Mulibrey Nanism	Cachexia	ORPHA:2576
Cardiofaciocutaneous Syndrome	Generalized hyperpigmentation, Redundant skin, Excessive wrinkled skin, Hyperkeratosis, Palmoplan...	ORPHA:1340
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Skin rash, Chilblains, Edema, Pericardial eff...	OMIM:615846
Netherton Syndrome	Hypernatremic dehydration, Angioedema, Parakeratosis	OMIM:256500
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Cutis laxa, Abnormality of skin pigmentation, Atypical scarring of skin, Atrophic scars, Thin skin	ORPHA:75496
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Scaling skin	OMIM:618419
Amoebiasis Due To Entamoeba Histolytica	Congestive heart failure, Leukocytosis, Weight loss, Pleural empyema, Hypoalbuminemia, Constricti...	ORPHA:67
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Neonatal Lupus Erythematosus	Hyperkeratosis, Parakeratosis, Erythematous plaque	ORPHA:398124
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Scarring alopecia of scalp	OMIM:617337
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Epidermal acanthosis, Epidermal nevus, Erythema, Hyperkeratosis, Congenital ichthy...	OMIM:308050
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Wilson Disease	Pruritus, Splenomegaly, Increased body weight, Weight loss, Anemia, Joint swelling, Failure to th...	ORPHA:905
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Splenomegaly, Congestive heart failure, Increased circulating ferritin conce...	ORPHA:465508
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Scaling skin	ORPHA:294023
Dend Syndrome	Dehydration	ORPHA:79134
Riddle Syndrome	Erythema, Scaling skin	ORPHA:420741
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss	OMIM:617321
Huntington Disease-Like 2	Weight loss	OMIM:606438
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Cachexia, Neonatal death, Polyhydramnios	OMIM:618186
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Dry skin	OMIM:614576
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Pseudomyxoma Peritonei	Ascites, Weight loss	ORPHA:26790
Cholera	Palmoplantar cutis laxa, Dehydration	ORPHA:173
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Kaposi Sarcoma	Abnormality of the spleen, Weight loss, Skin rash, Lymphedema	ORPHA:33276
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve...	ORPHA:3208
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Methylmalonic Aciduria, Cblb Type	Dehydration	OMIM:251110
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Hyperkeratosis, Scaling ski...	OMIM:308205
Restrictive Dermopathy 1	Skin erosion, Scaling skin, Thin skin, Epidermal hyperkeratosis	OMIM:275210
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Hypokalemia, Weight loss	OMIM:613239
Noonan Syndrome 2	Hyperkeratosis, Nevus, Palmoplantar cutis laxa, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:605275
Pneumocystosis	Abnormal neutrophil count, Weight loss, Increased circulating antibody level, Chronic oral candid...	ORPHA:723
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Hydrops fetalis, Dehydration	OMIM:557000
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema, Weight loss	ORPHA:168811
Castleman Disease	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:160
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Monoclonal elevation of circulating IgA, Myocardial in...	ORPHA:91139
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hyperalaninemia, Cachexia, Anemia, Weight loss	ORPHA:298
Thymic Carcinoma	Palpebral edema, Edema, Weight loss	ORPHA:99868
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Pruritus, Spl...	ORPHA:98849
Mycetoma	Subcutaneous nodule, Cobblestone-like hyperkeratosis, Cutaneous cyst	ORPHA:2583
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Pulmonary venou...	ORPHA:90060
Desmoplastic Small Round Cell Tumor	Cachexia, Ascites, Anemia, Weight loss	ORPHA:83469
Poems Syndrome	Edema, Pericardial effusion, Abnormality of skin physiology, Weight loss, Pulmonary arterial hype...	ORPHA:2905
Kindler Epidermolysis Bullosa	Aplasia/Hypoplasia of the skin, Erythema, Abnormality of skin pigmentation, Hyperkeratosis, Atypi...	ORPHA:2908
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Angioedema, Weight loss, Lymphocyt...	ORPHA:139402
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis, Epidermal acanthosis	OMIM:612852
Noonan Syndrome 10	Palmoplantar cutis laxa, Hyperkeratosis, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:616564
Pachyonychia Congenita 3	Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis	OMIM:615726
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decreased plasma to...	ORPHA:42
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration	OMIM:125800
Renal Hypoplasia	Dehydration	ORPHA:93101
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration	OMIM:304800
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Weight loss, Lymphocytosis, Hypochromi...	ORPHA:514
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, Heart murmur, We...	ORPHA:100085
Huntington Disease-Like 1	Cerebellar atrophy, Weight loss	ORPHA:157941
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Weight loss	ORPHA:54251
Methylmalonic Aciduria, Cbla Type	Dehydration	OMIM:251100
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Rat-Bite Fever	Scaling skin	ORPHA:31205
Alternating Hemiplegia Of Childhood	Pallor, Dehydration	ORPHA:2131
Incontinentia Pigmenti	Erythema, Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation, Hyperkeratosi...	ORPHA:464
Pfapa Syndrome	Splenomegaly, Weight loss	ORPHA:42642
Arthrogryposis And Ectodermal Dysplasia	Atypical scarring of skin, Hyperkeratosis, Dry skin	OMIM:601701
Shigellosis	Dehydration, Purpura	ORPHA:810
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ele...	ORPHA:49041
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Petechiae, Purpura	OMIM:608013
Graves Disease, Susceptibility To, 1	Congestive heart failure, Weight loss	OMIM:275000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Wolman Disease	Cachexia, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Osteootohepatoenteric Syndrome	Pruritus, Dehydration, Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure...	OMIM:619377
Lysosomal Acid Lipase Deficiency	Hyponatremia, Failure to thrive, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow foam cel...	ORPHA:275761
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:90003
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Dehydration	ORPHA:90791
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Skin rash, Elevated circulating C-reactive pro...	OMIM:301074
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Few cafe-au-lait spots, Sacral dimple, Erythema, Facial erythema, Cutis laxa, Scaling skin, Ichth...	OMIM:619503
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope...	ORPHA:37042
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Skin rash, Eosinophilia, Myocardial infarction, Transient is...	ORPHA:183
Q Fever	Pericarditis, Maculopapular exanthema, Pericardial effusion, Thrombocytopenia, Splenomegaly, Vasc...	ORPHA:781
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Weight loss	ORPHA:65682
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thrombocytopenia, Leuk...	ORPHA:824
Premature Aging Syndrome, Penttinen Type	Thickened skin, Skin nodule, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Dermal atrop...	OMIM:601812
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Incontinentia Pigmenti	Abnormality of skin pigmentation, Hyperkeratosis, Erythema, Pallor	OMIM:308300
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Fai...	OMIM:212750
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Subcutaneous nodule, Papule	ORPHA:79280
Riboflavin Transporter Deficiency	Hypertension, Cachexia	ORPHA:97229
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Weight loss, Melena, Palpitations, Hypotensio...	ORPHA:100080
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:276621
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Cachexia, Splenom...	ORPHA:3452
Toxic Epidermal Necrolysis	Macule, Erythema, Skin ulcer, Acantholysis	ORPHA:537
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Anemia, Lymphedema	ORPHA:2930
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli...	ORPHA:85450
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Oligomeganephronia	Dehydration	ORPHA:2260
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Weight loss	ORPHA:411703
Cardiofaciocutaneous Syndrome 1	Numerous nevi, Hyperkeratosis, Multiple lentigines, Ichthyosis, Hyperpigmentation of the skin	OMIM:115150
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Nevus	OMIM:620189
Glossopharyngeal Neuralgia	Jaw claudication, Weight loss, Chiari type I malformation, Syncope, Bradycardia	ORPHA:221098
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Gm1 Gangliosidosis	Splenomegaly, Patent ductus arteriosus, Congestive heart failure, Hydrops fetalis, Hepatosplenome...	ORPHA:354
Kikuchi-Fujimoto Disease	Skin rash, Palpebral edema, Elevated circulating C-reactive protein concentration, Pruritus, Pust...	ORPHA:50918
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Hyperc...	ORPHA:199299
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio...	ORPHA:100082
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Severe Generalized Junctional Epidermolysis Bullosa	Edema, Skin erosion, Dehydration, Aplasia cutis congenita, Skin plaque	ORPHA:79404
Colchicine Poisoning	Dehydration	ORPHA:31824
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperkeratosis, Multiple lentigines, Ichthyosis, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:607721
Mcdonough Syndrome	Cachexia	ORPHA:2471
Xfe Progeroid Syndrome	Cachexia, Death in adolescence, Hypertension, Ascites, Hypoalbuminemia, Failure to thrive	OMIM:610965
Bethlem Myopathy	Hyperkeratosis, Cigarette-paper scars	ORPHA:610
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Dehydration	ORPHA:79282
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis, Weight loss, Anemia, Leukopen...	ORPHA:520
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Milroy Disease	Hyperkeratosis	ORPHA:79452
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Iron defic...	ORPHA:100078
Idiopathic Bronchiectasis	Cachexia, Myocardial infarction	ORPHA:60033
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, H...	ORPHA:95409
Vipoma	Ascites, Erythema, Dehydration	ORPHA:97282
Eec Syndrome	Aplasia/Hypoplasia of the skin, Hyperkeratosis, Nevus, Generalized hypopigmentation, Dry skin	ORPHA:1896
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
Lethal Acantholytic Erosive Disorder	Acantholysis	ORPHA:158687
Felty Syndrome	Pericarditis, Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thr...	ORPHA:47612
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Abnormality of body weight, Increased circul...	ORPHA:2298
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation	OMIM:225050
Stevens-Johnson Syndrome	Macule, Erythema, Acantholysis	ORPHA:36426
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Weight loss, Melena, Iron defici...	ORPHA:100075
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Right ventricular failure, Weight loss, Palpitations, Facial telangiecta...	ORPHA:97287
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Weight loss, Isch...	ORPHA:679
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Joint swelling, Skin ulcer, Dehydration	ORPHA:534
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Caroli Disease	Portal hypertension, Pruritus, Splenomegaly, Leukocytosis, Conjugated hyperbilirubinemia, Abnorma...	ORPHA:53035
Leprosy	Urticarial plaque, Hypopigmented macule, Skin nodule, Penetrating foot ulcers, Verrucous papule, ...	ORPHA:548
Brucellosis	Pericarditis, Miscarriage, Transient ischemic attack, Small for gestational age, Elevated circula...	ORPHA:1304
Pearson Syndrome	Corneal stromal edema, Cafe-au-lait spot, Hydrops fetalis, Dehydration	ORPHA:699
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Weight loss, Ascites	ORPHA:131
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Alveolar Echinococcosis	Eosinophilia, Portal hypertension, Pedal edema, Weight loss, Abnormal spleen morphology, Increase...	ORPHA:284
Pyruvate Carboxylase Deficiency	Dehydration	ORPHA:3008
Neuroblastoma, Susceptibility To, 1	Hypertension, Failure to thrive, Anemia, Weight loss	OMIM:256700
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, O...	ORPHA:79102
Postinfectious Vasculitis	Cerebral vasculitis, Abnormal circulating protein concentration, Inflammatory abnormality of the ...	ORPHA:48435
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Microsporidiosis	Skin nodule, Dehydration	ORPHA:2552
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Hypomelanotic macule	OMIM:617052
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive	ORPHA:79128
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an...	ORPHA:99867
Cowden Syndrome	Macule, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratode...	ORPHA:201
Waardenburg Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature...	ORPHA:3440
Nephroblastoma	Hypertension, Weight loss	ORPHA:654
Infantile Nephropathic Cystinosis	Dehydration	ORPHA:411629
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Recurrent skin infections, Skin rash, Decreased circulatin...	OMIM:619381
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Polyhydramnios	ORPHA:2774
Nodular Non-Suppurative Panniculitis	Splenomegaly, Edema, Weight loss	ORPHA:33577
Renpenning Syndrome	Cachexia	ORPHA:3242
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Dermal atrophy	OMIM:278800
Erdheim-Chester Disease	Skin rash, Abnormal cerebellum morphology, Congestive heart failure, Weight loss, Joint swelling,...	ORPHA:35687
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios	ORPHA:223
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Oligohydramnios	ORPHA:96191
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:29072
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Woodhouse-Sakati Syndrome	Scaling skin	ORPHA:3464
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Skin rash, Epista...	ORPHA:900
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Dehydration	ORPHA:168558
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Ichthyosis	OMIM:148210
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Dehydration	ORPHA:289548
Adrenocortical Carcinoma	Increased body weight, Weight loss, Hypertension, Hypokalemia, Palpitations	ORPHA:1501
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia, Weight loss, Hypotension, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:361
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Pruritus, Splenomegaly, C...	ORPHA:171
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Mandibuloacral Dysplasia	Acanthosis nigricans, Abnormality of skin pigmentation, Thin skin	ORPHA:2457
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischemia, Arrhyt...	ORPHA:397
Distal Renal Tubular Acidosis	Dehydration	ORPHA:18
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Weight loss	ORPHA:2126
Chime Syndrome	Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis	ORPHA:3474
Cystic Echinococcosis	Eosinophilia, Weight loss, Increased circulating antibody level, Hyperbilirubinemia, Splenic cyst	ORPHA:400
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform lesion	ORPHA:85436
Isolated Permanent Neonatal Diabetes Mellitus	Dehydration	ORPHA:99885
Juvenile Nephropathic Cystinosis	Dehydration	ORPHA:411634
8P23.1 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Obesity, Weight loss	ORPHA:251071
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation	OMIM:613988
Reactive Arthritis	Aortic regurgitation, Pericarditis, Pustule, Weight loss, Joint swelling, Hyperkeratosis	ORPHA:29207
Pseudoxanthoma Elasticum	Civatte bodies, Yellow papule, Cutis laxa	OMIM:264800
Liposarcoma	Weight loss	ORPHA:69078
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Death in early adulthood, Elevated circulating deoxyuridine concentration, Cachexia, Weight loss,...	OMIM:603041
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Multiple Endocrine Neoplasia Type 1	Large cafe-au-lait macules with irregular margins, Confetti-like hypopigmented macules, Dehydration	ORPHA:652
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death, Weight loss	ORPHA:764
Bartter Syndrome Type 4	Polyhydramnios, Dehydration	ORPHA:89938
Koolen-De Vries Syndrome Due To A Point Mutation	Numerous nevi, Sacral dimple, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Fair hair, Hypopigme...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Numerous nevi, Sacral dimple, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Fair hair, Hypopigme...	ORPHA:363958
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Patent ductus arteriosus, Hematochezia,...	ORPHA:79076
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Addison Disease	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Thiamine-responsive mega...	ORPHA:85138
Tetrasomy 12P	Cachexia	ORPHA:884
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Thymic Neuroendocrine Tumor	Hypercalcemia, Weight loss	ORPHA:97289
Marburg Hemorrhagic Fever	Petechiae, Dehydration	ORPHA:99826
Lymphatic Filariasis	Hyperkeratosis, Hyperpigmentation of the skin	ORPHA:2035
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Anemia	ORPHA:71273
Bartter Syndrome, Type 1, Antenatal	Polyhydramnios, Dehydration	OMIM:601678
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Eczema, ...	OMIM:614162
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Gerstmann-Straussler Disease	Cerebellar atrophy, Weight loss	OMIM:137440
Cystinosis, Nephropathic	Dehydration	OMIM:219800
Parenteral Nutrition-Associated Cholestasis	Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Abno...	ORPHA:567983
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Hepatosplenomegal...	ORPHA:576
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyperkeratosis, Palmoplan...	OMIM:225400
Aredyld Syndrome	Splenomegaly, Cachexia	ORPHA:1133
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Patchy hypo- and hyperpigmen...	ORPHA:79474
Lynch Syndrome	Gastrointestinal hemorrhage, Death in infancy, Death in early adulthood, Weight loss	ORPHA:144
Bartter Syndrome, Type 2, Antenatal	Polyhydramnios, Dehydration	OMIM:241200
Glucagonoma	Gastrointestinal hemorrhage, Skin rash, Hypercalcemia, Acanthocytosis, Pruritus, Weight loss, Nor...	ORPHA:97280
Fucosidosis	Generalized hyperkeratosis	ORPHA:349
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Abnormality of dermal melanosomes, Depigmentation/hyperpigmentation of skin, Epid...	ORPHA:73223
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, Cachexia	OMIM:312750
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Perry Syndrome	Weight loss	OMIM:168605
Acrodermatitis Enteropathica	Pustule, Failure to thrive, Weight loss	ORPHA:37
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Acantholysis, Skin ulcer, Atypical scarring of skin, Hypopigmentation of the skin, Hyperpigmentat...	ORPHA:95455
Cystic Fibrosis	Dehydration	OMIM:219700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Atrophic scars, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Juvenile Amyotrophic Lateral Sclerosis	Abnormal cerebellum morphology, Cachexia	ORPHA:300605
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Acne, Myocardial infarction, Pul...	ORPHA:117
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Pericarditis, Eosinophilia, Increased circulating IgG4 leve...	ORPHA:449395
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Proximal Renal Tubular Acidosis	Dehydration	ORPHA:47159
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Increased pulmonary vascular resistance, Abnormal circulating calcium ...	ORPHA:60025
Oromandibular Dystonia	Weight loss	ORPHA:93958
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Dilated cardiomyopathy, Mildly elevated creatine kinase, Weight loss	OMIM:607459
Fanconi Anemia, Complementation Group A	Abnormality of skin pigmentation, Cafe-au-lait spot, Anemic pallor	OMIM:227650
Ramon Syndrome	Hyperkeratosis, Pigmentary retinopathy	OMIM:266270
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Abnormal circulating creatine concentration, Weight loss	ORPHA:440437
Fatal Familial Insomnia	Weight loss	OMIM:600072
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Infantile Krabbe Disease	Abnormal heart rate variability, Failure to thrive, Cachexia	ORPHA:206436
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Blue irides, Hyperkeratosis, Thin skin, Generalized hypopigmentation, Fair hair	OMIM:129900
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Short Syndrome	Weight loss	ORPHA:3163
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hyponatremia, Miscarriage, Acne, Hypovolemia, Hyperkalemia, Dehydration, Weight loss, Hypo...	ORPHA:90794
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi...	OMIM:164310
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Skin rash, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:91500
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra...	OMIM:608710
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte...	ORPHA:91347
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Somatostatinoma	Gastrointestinal hemorrhage, Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Ascites	ORPHA:97283
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:97286
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Cachexia, Lymphedema, Telangiectasia, Intracranial hemorrhage	ORPHA:109
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Facial edema,...	ORPHA:79078
Sarcoidosis	Hemolytic anemia, Abnormal cardiac ventricular function, Maculopapular exanthema, Eosinophilia, P...	ORPHA:797
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Nevus	ORPHA:276280
Schwartz-Jampel Syndrome	Death in infancy, Elevated circulating creatine kinase concentration, Polyhydramnios, Cachexia, D...	ORPHA:800
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Pericardial effusion, Splenomegaly, Weight loss, Increased circulating antibody lev...	OMIM:181000
Ablepharon Macrostomia Syndrome	Redundant skin, Abnormality of skin pigmentation, Excessive wrinkled skin, Thin skin, Dry skin	ORPHA:920
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Epider...	ORPHA:744
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Edema, Weight loss	ORPHA:309031
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Fair hair, Blue irides, Generalized hypopigmentation	OMIM:604292
Ppoma	Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss	ORPHA:97278
Fabry Disease	Hyperkeratosis, Subcutaneous nodule	ORPHA:324
Mucoepithelial Dysplasia, Hereditary	Follicular hyperkeratosis	OMIM:158310
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Warburg-Cinotti Syndrome	Erythema, Thin skin, Follicular hyperkeratosis	OMIM:618175
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Weight loss, Anemia, Hepatosplenomegaly	ORPHA:85408
Gallbladder Neuroendocrine Tumor	Ascites, Weight loss	ORPHA:100086
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Weight lo...	ORPHA:84
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Grfoma	Gastrointestinal hemorrhage, Ascites, Hypercalcemia, Weight loss	ORPHA:97261
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Trisomy 18	Chiari malformation, Cachexia, Oligohydramnios	ORPHA:3380
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperkeratosis, Erythema, Papule, Ichthyosis	ORPHA:2273
Klatskin Tumor	Weight loss	ORPHA:99978
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Thin skin, Follicular hyperkeratosis	ORPHA:536545
Leprechaunism	Acanthosis nigricans, Thickened skin, Hyperkeratosis	ORPHA:508
Parathyroid Carcinoma	Shortened QT interval, Hypophosphatemia, Hypercalcemia, Weight loss	ORPHA:143
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
African Trypanosomiasis	Abnormal EKG, Pericarditis, Miscarriage, Pruritus, Splenomegaly, Myocarditis, Congestive heart fa...	ORPHA:3385
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia, Weight loss	ORPHA:913
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis, Dry skin	OMIM:210710
Cockayne Syndrome	Cerebellar atrophy, Cachexia, Splenomegaly, Retinal hemorrhage, Hypertension, Hyperuricemia, Mala...	ORPHA:191
Malt Lymphoma	Anemia, Weight loss	ORPHA:52417
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Myocardial infarction, Leukocytosis, Increased body weight, Recurrent cutaneous fungal infe...	ORPHA:99889
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Polyhydramnios, Weight loss	ORPHA:2020
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Familial Pancreatic Carcinoma	Weight loss, Hepatosplenomegaly	ORPHA:1333
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Epidermal acanthosis	ORPHA:83617
Nocardiosis	Pleural effusion, Weight loss, Pericarditis, Cutaneous abscess	ORPHA:31204
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly...	ORPHA:2072
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia	ORPHA:647
Camurati-Engelmann Disease	Cachexia, Splenomegaly, Leukopenia, Hypertrophic cardiomyopathy, Slender build, Anemia	ORPHA:1328
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l...	ORPHA:2388
Tropical Pancreatitis	Weight loss	ORPHA:103918
Seckel Syndrome	Cachexia	ORPHA:808
Goodpasture Syndrome	Weight loss, Increased blood urea nitrogen, Anemia, Pulmonary hemorrhage	OMIM:233450
Marfan Syndrome	Congestive heart failure, Slender build, Cachexia	ORPHA:558
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Stickler Syndrome	Arrhythmia, Slender build, Cachexia	ORPHA:828
Norrie Disease	Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Cachexia	ORPHA:649

Histopathology

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

There is no histopathology data for Krt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Krt1.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A role for keratins in supporting mitochondrial organization and function in skin keratinocytes.	Molecular biology of the cell (March 2020)	Krt16^{tm1(KOMP)Vlcg}	32213122
Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.	Human molecular genetics (July 2019)	Krt16^{tm1(KOMP)Vlcg}	31220272
Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita.	The Journal of investigative dermatology (December 2017)	Krt16^{tm1(KOMP)Vlcg}	PMC5912985
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Krt17^{tm1.1(KOMP)Vlcg}	PMC5503261
Long-lived keratin 15+ esophageal progenitor cells contribute to homeostasis and regeneration.	The Journal of clinical investigation (May 2017)	Krt15^{tm1(KOMP)Vlcg}	PMC5451220
Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.	The Journal of clinical investigation (May 2016)	Krt16^{tm1(KOMP)Vlcg}	PMC4887188
Keratin 16 regulates innate immunity in response to epidermal barrier breach.	Proceedings of the National Academy of Sciences of the United States of America (November 2013)	Krt16^{tm1(KOMP)Vlcg}	PMC3845144
Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.	The Journal of investigative dermatology (February 2012)	Krt16^{tm1(KOMP)Vlcg}	PMC3326191

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MGI Allele	Allele Type	Produced
Krt1^{tm96263(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Krt1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Krt1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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