Registered for phenotyping at IMPC

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

Gene Summary

keratin 1
Krt-2.1,  Krt2-1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Krt1 mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Papule ORPHA:1336
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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