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Gene: Keap1 MGI:1858732

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

kelch-like ECH-associated protein 1

Synonyms:

ring canal protein, INrf2

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 Keap1 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 Keap1 (1 diseases)
Human diseases predicted to be associated with Keap1 (465 diseases)

The table below shows human diseases associated to Keap1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Familial Multinodular Goiter		Colorectal polyposis	ORPHA:276399

The table below shows human diseases predicted to be associated to Keap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht...	OMIM:617571
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Acrokeratosis	OMIM:101900
Gastric Cancer	Stomach cancer	OMIM:613659
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Palm...	ORPHA:530838
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Honeycomb palmop...	ORPHA:79395
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke...	OMIM:607936
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Absence of intrinsic factor	OMIM:243320
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy...	OMIM:612281
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b...	OMIM:607602
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform...	OMIM:113800
Dowling-Degos Disease 4	Epidermal acanthosis, Hypergranulosis	OMIM:615696
Bathing Suit Ichthyosis	Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar sc...	ORPHA:100976
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Psoriasis 2	Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin	OMIM:602723
Ichthyosis With Confetti	Short stature, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform ery...	OMIM:609165
Acral Peeling Skin Syndrome	Excessive wrinkling of palmar skin, Erythema, Scaling skin, Ichthyosis	ORPHA:263534
Idiopathic Localized Lipodystrophy	Scleroderma, Morphea, Erythema, Scaling skin	ORPHA:90158
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling...	OMIM:616295
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Short stature, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoder...	OMIM:616029
Irida Syndrome	Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis	ORPHA:209981
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Growth delay, Short stature	ORPHA:2812
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro...	OMIM:614457
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Dry skin, Scaling skin	OMIM:618084
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Epidermal acanthosis, Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyp...	ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Delayed puberty	ORPHA:2297
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Bazex Syndrome	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans	ORPHA:166113
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato...	ORPHA:2199
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos...	OMIM:148500
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Mednik Syndrome	Hyperkeratosis, Abnormal intestine morphology, Ichthyosis	ORPHA:171851
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Short stature, Abnormal stomach morphology, Ichthyosis	ORPHA:281090
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Feingold Syndrome 2	Postnatal growth retardation, Short stature, Intestinal atresia	OMIM:614326
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan...	ORPHA:312
Immunodeficiency 58	Helicobacter pylori infection, Psoriasiform lesion, Short stature, Dysphagia, Colitis, Scaling sk...	OMIM:618131
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Atrophoderma Vermiculata	Abnormal epidermal morphology, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Familial Reactive Perforating Collagenosis	Abnormal epidermal morphology, Hyperkeratotic papule	ORPHA:79147
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Esophageal neoplasm, Abnormal epidermal morphology, Palmop...	ORPHA:79501
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin	ORPHA:90368
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino...	ORPHA:411696
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Oral leukoplakia	OMIM:615735
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Mal De Meleda	Epidermal acanthosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:87503
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Congenital pyloric atresia	OMIM:612138
Acquired Ichthyosis	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin	ORPHA:454
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper...	OMIM:300918
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Reynolds Syndrome	Abnormal gastric mucosa morphology, Xerostomia, Skin ulcer, Gastroesophageal reflux, Dysphagia, S...	ORPHA:779
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan...	ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthok...	OMIM:617525
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Failure to thrive, Dry skin, Scaling skin	OMIM:609180
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Failure to thrive	OMIM:179010
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis	ORPHA:89838
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis	ORPHA:79503
Moynahan Syndrome	Hyperkeratosis, Short stature, Cachexia	ORPHA:2574
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach	OMIM:114500
Ulerythema Ophryogenesis	Dry skin, Hyperkeratotic papule, Follicular hyperkeratosis, Facial erythema	ORPHA:3406
Lichen Planopilaris	Hyperkeratosis, Abnormal intestine morphology, Skin ulcer	ORPHA:525
Cutaneous Mastocytoma	Thickened skin, Erythema, Scaling skin	ORPHA:79455
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypergranulosis, Acantholysis, Eosinophilic infiltration of the esophagus, Malabsorption, Growth ...	OMIM:615508
Erythrokeratodermia Variabilis	Short stature, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Dry skin	ORPHA:317
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis, Psoriasiform lesion, Scaling skin	ORPHA:284426
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis...	OMIM:148700
Lupus Erythematosus Tumidus	Scaling skin	ORPHA:90283
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Epidermal acanth...	OMIM:133200
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Thickened skin, Scaling skin	ORPHA:79456
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Severe postnatal growth retardation, High palate, Scaling skin, Ichthyosis	ORPHA:35173
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis...	ORPHA:157798
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis	OMIM:615190
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis	OMIM:615022
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Darier Disease	Acrokeratosis, Thickened skin, Anal mucosal leukoplakia, Palmoplantar keratoderma, Skin vesicle, ...	ORPHA:218
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Portal Hypertension, Noncirrhotic, 1	Esophageal varix	OMIM:617068
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Psoriasiform lesion, Growth delay, Inflammation of the large...	OMIM:614700
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Sjögren-Larsson Syndrome	Short stature, Erythema, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:816
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Gastroesophageal reflux, High palate, Follicular hyperkeratosis, Delayed puberty, Dry...	ORPHA:486815
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Palmoplantar hyperkeratosis	OMIM:604536
Ectodermal Dysplasia-Skin Fragility Syndrome	Short stature, Abnormal tongue morphology, Palmoplantar keratoderma, Anoperineal fistula, Scaling...	ORPHA:158668
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagia, Dry skin	OMIM:612379
Peeling Skin Syndrome 1	Short stature, Scaling skin	OMIM:270300
Myoectodermal Gonadal Dysgenesis Syndrome	Short stature, Small for gestational age, Pyloric stenosis, Scaling skin, Dry skin, Anal atresia	OMIM:618419
Wolman Disease	Growth delay, Esophageal varix, Cachexia, Steatorrhea	ORPHA:75233
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Failure to thrive in infancy, Scaling skin	OMIM:606367
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P...	OMIM:605676
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Ramon Syndrome	Hyperkeratosis, Failure to thrive, Narrow palate	ORPHA:3019
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma	OMIM:619182
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion, Short stature	OMIM:616298
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti...	ORPHA:38
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk...	OMIM:619208
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Ichthyosis, Congenital, Autosomal Recessive 2	Epidermal acanthosis, Hypergranulosis, Erythema, Growth delay, Hyperkeratosis, Congenital ichthyo...	OMIM:242100
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue	ORPHA:1839
Kid Syndrome	Epidermal acanthosis, Postnatal growth retardation, Congenital ichthyosiform erythroderma, Palmop...	ORPHA:477
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans...	OMIM:618527
Portal Hypertension, Noncirrhotic, 2	Ecchymosis, Esophageal varix, Petechiae, Hepatocellular carcinoma	OMIM:619463
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Intrauterine growth retardation, Growth delay, Esophageal varix	OMIM:617341
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Esophageal varix, Growth delay, Hyperkeratosis, Inflammation of the large inte...	OMIM:614576
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo...	ORPHA:329971
Acute Radiation Syndrome	Hyperkeratosis, Scaling skin, Skin ulcer	ORPHA:454831
Familial Melanoma	Dry skin, Neoplasm of the stomach	ORPHA:618
Retinitis Pigmentosa 89	Esophageal varix	OMIM:618955
Pemphigus Foliaceus	Skin vesicle, Erythema, Scaling skin, Acantholysis	ORPHA:79481
Mpdu1-Cdg	Scaling skin, Ichthyosis	ORPHA:79323
Graft Versus Host Disease	Failure to thrive, Scaling skin, Recurrent gastroenteritis, Gastrointestinal inflammation	ORPHA:39812
Neonatal Inflammatory Skin And Bowel Disease	Anal fissure, Erythema, Perianal dermatitis, Scaling skin, Recurrent gastroenteritis	ORPHA:294023
Proteus Syndrome	Hyperkeratosis, Epidermal acanthosis	OMIM:176920
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Palmoplantar keratoderma, Scaling skin, Dry skin	OMIM:618373
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythr...	OMIM:242300
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Erythema, Palmoplantar hyperkeratosis	ORPHA:158673
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty	OMIM:618985
Bronchogenic Cyst	Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Cholesteryl Ester Storage Disease	Esophageal varix	ORPHA:75234
Cap Polyposis	Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss	ORPHA:160148
Noonan Syndrome 7	Short stature, Large for gestational age, Growth delay, Dysphagia, Impaired oropharyngeal swallow...	OMIM:613706
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis, Failure to thrive	OMIM:226700
Plummer-Vinson Syndrome	Tongue atrophy, Esophageal web, Pallor, Dysphagia, Glossitis	ORPHA:54028
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Growth delay, Dysphagia, Abnormal esoph...	OMIM:226600
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Centrifugal Lipodystrophy	Erythema, Scaling skin	ORPHA:90156
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Classic Mycosis Fungoides	Hyperkeratosis, Erythema, Dry skin, Skin ulcer	ORPHA:2584
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Gastroesophageal reflux	ORPHA:36386
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis, Short stature	OMIM:618625
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Recon Progeroid Syndrome	Growth delay, Dry skin, Short stature, Scaling skin	OMIM:620370
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Dry skin, Congenital pyloric atresia	ORPHA:2617
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, High palate, Follicular hyperkeratosis	OMIM:617066
Netherton Syndrome	Parakeratosis, Villous atrophy, Congenital nonbullous ichthyosiform erythroderma, Failure to thri...	OMIM:256500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Esophageal stenosis, Anal fissure, Esophageal stricture, Growth delay, Gastroe...	ORPHA:89842
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Dyskeratosis Congenita, Autosomal Dominant 6	Intrauterine growth retardation, Esophageal stenosis, Oral leukoplakia	OMIM:616553
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Costello Syndrome	Short stature, Redundant skin, Failure to thrive in infancy, Lack of skin elasticity, Narrow pala...	ORPHA:3071
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Weight loss...	ORPHA:131
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:602540
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Postnatal growth retardation, Pyloric stenosis	OMIM:617219
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Acute Generalized Exanthematous Pustulosis	Skin vesicle, Purpura, Scaling skin, Acantholysis	ORPHA:293173
Glycogen Storage Disease Iv	Failure to thrive, Esophageal varix	OMIM:232500
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho...	ORPHA:1018
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Porphyria Cutanea Tarda	Hepatocellular carcinoma, Scaling skin, Increased fecal porphyrin	ORPHA:101330
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Lipoid Proteinosis	Thickened skin, Hyperkeratosis, High palate, Dysphagia, Microglossia, Tongue nodules	ORPHA:530
Pachyonychia Congenita 1	Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis, Psoriasiform lesion	ORPHA:163525
Dowling-Degos Disease	Skin vesicle, Hyperkeratosis, Hyperkeratotic papule, Anal margin squamous cell carcinoma	ORPHA:79145
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:129200
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Inflammation of the large intestine, Failure to thrive, Gastritis	OMIM:618108
Leopard Syndrome 3	Short stature, Epidermal hyperkeratosis, Growth delay, Hyperkeratosis, Dry skin	OMIM:613707
Methimazole Embryofetopathy	Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth retardation	ORPHA:1923
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Short stature, Small for gestational age, Malabsorption, Hyperkeratosis, ...	OMIM:601675
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Growth delay, Short stature	OMIM:615272
Non-Syndromic Posterior Hypospadias	Small for gestational age, Esophageal atresia, Anal atresia, Cleft palate	ORPHA:95706
Lamellar Ichthyosis	Short stature, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:313
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis	OMIM:610227
Vulvovaginal Gingival Syndrome	Parakeratosis, Erythema, Epidermal acanthosis	ORPHA:83453
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Stria...	ORPHA:64745
Immunodeficiency 12	Growth delay, Esophageal stricture, Short stature, Decreased body weight	OMIM:615468
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Chilblain Lupus	Hyperkeratosis, Skin ulcer	ORPHA:90280
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Psoriasis 14, Pustular	Parakeratosis, Epidermal acanthosis, Erythema, Furrowed tongue, Geographic tongue	OMIM:614204
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrauterine growth retard...	OMIM:620133
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Dry skin	OMIM:224750
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Cleft palate	ORPHA:398189
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Septo-Optic Dysplasia Spectrum	Short stature, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Obesity, Dry skin	ORPHA:3157
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Epidermal acanthosis, Palmoplantar hyperkeratosis, Growth delay, Follicular hy...	OMIM:617388
Noonan Syndrome 8	Short stature, Large for gestational age, Hyperkeratosis, Palmoplantar cutis laxa, Failure to thrive	OMIM:615355
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Aganglionic megacolon, Shor...	OMIM:308205
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive, Short stature	OMIM:615279
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly	ORPHA:1010
Recessive Dystrophic Epidermolysis Bullosa Inversa	Growth delay, Esophageal stricture, Palmoplantar keratoderma, Gastrointestinal inflammation	ORPHA:79409
Gaucher Disease, Perinatal Lethal	Dysphagia, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Neonatal...	OMIM:608013
Pachyonychia Congenita	Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h...	ORPHA:2309
Ornithine Transcarbamylase Deficiency	Pyloric stenosis	ORPHA:664
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Psoriasiform lesion	ORPHA:169154
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Palmoplantar hyperkerato...	OMIM:257980
Adams-Oliver Syndrome 6	Esophageal varix	OMIM:616589
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Restrictive Dermopathy	Epidermal hyperkeratosis, Submucous cleft hard palate, Scaling skin, Intrauterine growth retardat...	ORPHA:1662
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Esophageal atresia, Short stature, Tracheoesophageal fistula	OMIM:619859
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma	ORPHA:64743
Riddle Syndrome	Erythema, Short stature, Scaling skin, Weight loss	ORPHA:420741
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Epidermal acanthosis	OMIM:616069
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Arteriosclerosis, Severe Juvenile	Gastric ulcer, Short stature, Delayed puberty	OMIM:208060
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Colitis, Failure to thrive in infancy	OMIM:301220
Dyskeratosis Congenita, Autosomal Dominant 2	Short stature, Esophageal stricture, Palmoplantar hyperkeratosis, Failure to thrive, Oral leukopl...	OMIM:613989
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis	ORPHA:254478
Rat-Bite Fever	Scaling skin, Parotitis, Weight loss	ORPHA:31205
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Erythema migrans, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Donohue Syndrome	Postnatal growth retardation, Hyperkeratosis, Severe failure to thrive, Acanthosis nigricans, Int...	OMIM:246200
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Hypotrichosis 6	Erythema, Follicular hyperkeratosis	OMIM:607903
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:615225
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra...	ORPHA:2538
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Short stature, Redundant skin, Failure to thrive in in...	ORPHA:1340
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis, Short stature	ORPHA:1573
Bacterial Toxic-Shock Syndrome	Ecchymosis, Scaling skin	ORPHA:36234
Werner Syndrome	Short stature, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Gastrointestinal carcinoma, N...	ORPHA:902
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Thickened skin, Skin ulcer, Scaling skin, Dry skin	ORPHA:2526
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis	ORPHA:89843
Coffin-Siris Syndrome 11	Esophageal atresia, High palate, Bifid uvula, Cleft soft palate	OMIM:618779
Restrictive Dermopathy 1	Epidermal hyperkeratosis, Submucous cleft hard palate, Stillbirth, Scaling skin, Neonatal death, ...	OMIM:275210
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Esophageal varix	ORPHA:367
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia	OMIM:314390
Aspergillosis	Abnormal esophagus morphology	ORPHA:1163
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Achalasia, Esophageal stenosis, Dysphagia	OMIM:615510
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Short stature, Esophageal varix, Hepatocellular adenoma, Increased body weight, Growth delay, Del...	ORPHA:264580
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Mirage Syndrome	Short stature, Esophageal stricture, Gastroesophageal reflux, Decreased body weight, Intrauterine...	OMIM:617053
Chronic Graft Versus Host Disease	Esophageal ulceration, Thickened skin, Esophageal stricture, Erythema, Xerostomia, Skin ulcer, We...	ORPHA:99921
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Failure to thrive, Dry skin, Ichthyosis	OMIM:610768
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Dry skin, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema	OMIM:308800
Ullrich Congenital Muscular Dystrophy 1	Slender build, Failure to thrive, High palate, Follicular hyperkeratosis	OMIM:254090
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Cleft soft palate, Erythema, Esophageal varix, Dysphagia, Facial erythema, Cut...	OMIM:619503
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Short stature	ORPHA:1883
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Esophageal atresia, Tracheoesophageal fistula	ORPHA:77298
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duoden...	OMIM:619227
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate	OMIM:614526
Fanconi Anemia, Complementation Group B	Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth retardation, Duo...	OMIM:300514
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Pachyonychia Congenita 3	Plantar hyperkeratosis, Furrowed tongue, Palmoplantar keratoderma, Follicular hyperkeratosis, Pal...	OMIM:615726
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis, Intraute...	ORPHA:1005
Superficial Epidermolytic Ichthyosis	Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis	ORPHA:455
Cholesteryl Ester Storage Disease	Failure to thrive, Esophageal varix, Steatorrhea	OMIM:278000
Kindler Epidermolysis Bullosa	Esophageal stricture, Erythema, Hyperkeratosis, Inflammation of the large intestine, Palmoplantar...	ORPHA:2908
Feingold Syndrome	Esophageal atresia, Short stature, Duodenal atresia	ORPHA:1305
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Dyskeratosis Congenita	Esophageal stenosis, Short stature, Malabsorption, Anorectal anomaly, Tracheoesophageal fistula, ...	ORPHA:1775
Darier-White Disease	Enlargement of parotid gland, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Rhombencephalosynapsis	Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia	ORPHA:59315
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Epidermal acanthosis, Short stature, Erythema, Hyperkeratosis, Congenital ichthyos...	OMIM:308050
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Coach Syndrome 1	Growth delay, Esophageal varix	OMIM:216360
Naxos Disease	Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis...	OMIM:601214
Lymphatic Malformation 12	Neonatal death, Hyperkeratosis	OMIM:620014
Leprechaunism	Postnatal growth retardation, Thickened skin, Rectal prolapse, Megarectum, Hyperkeratosis, Severe...	ORPHA:508
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Failure to thrive, Dry skin, Xerostomia	ORPHA:238468
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Malabsorption, Thickened skin, Weight loss, Hyperkeratosis	ORPHA:79430
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis, Epidermal acanthosis, Failure to thrive in infancy	OMIM:612852
Prolidase Deficiency	Erythema, Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Dry skin	ORPHA:742
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Esophageal varix	ORPHA:974
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Cleft palate	OMIM:617337
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Dry skin, Short stature, Cleft palate	OMIM:601701
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Epidermal acanthosis, Ichthyosis, Orthokeratosis, Dry skin	OMIM:607626
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Cirrhosis, Familial	Esophageal varix	OMIM:215600
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:181600
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acantholysis, Esophageal stricture, Erythema, Weight loss, Dysphagia	ORPHA:36426
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Short stature, Skin ulcer	ORPHA:1806
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Sialidosis Type 1	Hyperkeratosis, Short stature	ORPHA:812
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Palmoplantar hyperkeratosis, Dysphagia, Oral leukoplakia	OMIM:173650
Wolfram Syndrome 2	Gastric ulcer	OMIM:604928
Cholestasis, Progressive Familial Intrahepatic, 8	Esophageal varix	OMIM:619662
Immunodeficiency 23	Failure to thrive, Esophageal stricture, Erythema, High palate	OMIM:615816
Adams-Oliver Syndrome 5	Esophageal varix	OMIM:616028
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Dyskeratosis Congenita, Autosomal Recessive 1	Esophageal stricture, Oral leukoplakia, Palmoplantar hyperkeratosis	OMIM:224230
Cardiofaciocutaneous Syndrome 1	Short stature, Submucous cleft hard palate, Hyperkeratosis, Gastroesophageal reflux, High palate,...	OMIM:115150
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Short stature, Growth delay, Hyperkeratosis, Palmoplantar keratoderma	OMIM:604173
Mandibulofacial Dysostosis, Guion-Almeida Type	Esophageal atresia, Short stature, Cleft palate	OMIM:610536
Cartilage-Hair Hypoplasia	Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabsorption, Esophageal atr...	OMIM:250250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix, Neonatal death	OMIM:263200
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Benign Schwannoma	Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology	ORPHA:252164
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Furrowed tongue, Oral leukoplakia, Ichthyosis	OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Ramon Syndrome	Hyperkeratosis, Short stature, Narrow palate, Decreased body weight	OMIM:266270
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Epidermal acanthosis, Postnatal growth retardation, Pyloric stenosis, Cleft palate...	ORPHA:83617
Chromomycosis	Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule	ORPHA:182
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb...	ORPHA:512
Rajab Interstitial Lung Disease With Brain Calcifications 1	Short stature, Intestinal malrotation, Small for gestational age, Esophageal varix, Growth delay,...	OMIM:613658
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Short stature, Large for gestational age, Hyperkeratosis, High palate, Ichthyosis, Failure to thrive	OMIM:607721
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Esophageal varix, Skin ulcer, Growth delay, Gastric ulcer, Delayed puberty, Ecchymosis	ORPHA:2072
Noonan Syndrome 10	Palmoplantar cutis laxa, Hyperkeratosis, High palate, Short stature	OMIM:616564
Reactive Arthritis	Hyperkeratosis, Inflammation of the large intestine, Weight loss	ORPHA:29207
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Neonatal Lupus Erythematosus	Hyperkeratosis, Parakeratosis	ORPHA:398124
Caroli Disease	Cholangiocarcinoma, Esophageal varix, Weight loss	ORPHA:53035
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Adenocarcinoma of the colon	OMIM:620189
Chronic Mucocutaneous Candidiasis	Hyperkeratosis, Erythema, Skin ulcer	ORPHA:1334
Woodhouse-Sakati Syndrome	Growth delay, Scaling skin, Delayed puberty	ORPHA:3464
Wolfram Syndrome	Gastrointestinal hemorrhage, Gastric ulcer, Delayed puberty, Malabsorption	ORPHA:3463
Hardikar Syndrome	Short stature, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal...	OMIM:301068
Trisomy 18	Short stature, Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Growth delay, Intrauter...	ORPHA:3380
Noonan Syndrome 2	Palmoplantar cutis laxa, Hyperkeratosis, High palate, Short stature	OMIM:605275
Feingold Syndrome Type 1	Jejunal atresia, Short stature, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duode...	ORPHA:391641
Progeroid Short Stature With Pigmented Nevi	Small for gestational age, Esophageal ulceration, Short stature, Delayed puberty	OMIM:176690
Fanconi Anemia, Complementation Group L	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Growth delay, Intrauterine growth re...	OMIM:614083
Fanconi Anemia, Complementation Group D2	Small for gestational age, Anemic pallor, Short stature, Esophageal atresia, Tracheoesophageal fi...	OMIM:227646
Vacterl With Hydrocephalus	Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Intrauterine growth retardation	ORPHA:3412
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Failure to thrive, Short stature, Intrauterine growth retardation	OMIM:617052
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Civatte bodies, Cutis laxa	OMIM:264800
Chronic Actinic Dermatitis	Epidermal acanthosis	ORPHA:330064
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Williams Syndrome	Colonic diverticula, Short stature, Redundant skin, Peptic ulcer, Malabsorption, Failure to thriv...	ORPHA:904
Lysosomal Acid Lipase Deficiency	Cachexia, Esophageal varix, Weight loss, Steatorrhea, Failure to thrive	ORPHA:275761
Cowden Syndrome	Short stature, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, ...	ORPHA:201
Distal Deletion 12Q	Short stature, Failure to thrive in infancy, High, narrow palate, Esophageal atresia, Pyloric ste...	ORPHA:96149
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Neonatal death, Anal atresia	OMIM:617925
Apert Syndrome	Esophageal atresia, Cleft palate, Narrow palate, Ectopic anus, Bifid uvula	ORPHA:87
Xeroderma Pigmentosum	Failure to thrive, Short stature, Thickened skin, Erythema, Hyperkeratosis, Dry skin	ORPHA:910
Van Esch-O'Driscoll Syndrome	Short stature, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth r...	OMIM:301030
Chime Syndrome	Erythema, Cleft palate, Skin ulcer, Hyperkeratosis, Ichthyosis	ORPHA:3474
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Thickened skin, Failure to thrive, Palmoplantar hyperkeratosis	OMIM:601812
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage	ORPHA:774
Apert Syndrome	Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Rhizomelic arm shortening, Ect...	OMIM:101200
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Fabry Disease	Short stature, Malabsorption, Hyperkeratosis, Delayed puberty, Achalasia	ORPHA:324
Maternal Phenylketonuria	Esophageal atresia, High palate, Intrauterine growth retardation	ORPHA:2209
Eec Syndrome	Short stature, Xerostomia, Cleft palate, Hyperkeratosis, Dry skin	ORPHA:1896
Classic Homocystinuria	Gastrointestinal hemorrhage, Esophageal varix, High palate	ORPHA:394
Congenital Tracheomalacia	Esophageal atresia, Tracheoesophageal fistula, Cutis laxa, Gastroesophageal reflux, Failure to th...	ORPHA:95430
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Esophageal varix, Skin ulcer, Purpura	OMIM:615688
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Large for gestational age, Esophageal atresia, Cle...	OMIM:229850
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Fucosidosis	Failure to thrive, Generalized hyperkeratosis	ORPHA:349
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Short stature, Skin ulcer	ORPHA:464
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Short stature, Pallor	OMIM:308300
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency, Epidermal hyperkeratosis	OMIM:137940
Microphthalmia, Syndromic 3	Postnatal growth retardation, Esophageal atresia, Short stature	OMIM:206900
Milroy Disease	Hyperkeratosis	ORPHA:79452
Mucoepithelial Dysplasia, Hereditary	Melena, Follicular hyperkeratosis, Furrowed tongue	OMIM:158310
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Disproportionate short stature, Hyperkeratosis, Severe postnatal growth retard...	OMIM:210710
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Esophageal varix	ORPHA:309854
Meige Disease	Cobblestone-like hyperkeratosis, Skin ulcer	ORPHA:90186
Vater/Vacterl Association	Postnatal growth retardation, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth ...	OMIM:192350
Caroli Syndrome	Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis	ORPHA:480520
Senior-Boichis Syndrome	Esophageal varix	ORPHA:84081
Feingold Syndrome 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa...	OMIM:164280
Atypical Werner Syndrome	Failure to thrive, Short stature, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Neoplasm o...	ORPHA:79474
Arima Syndrome	Growth delay, Esophageal varix	OMIM:243910
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Growth delay, Protein-losing e...	ORPHA:731
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform lesion	ORPHA:85436
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Aganglionic megacolon, Erythema, Growth delay, Hyperkeratosis, Ichthyosis, ...	ORPHA:2273
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Moderate postnatal growth retardation	OMIM:118650
6Q Terminal Deletion Syndrome	Hyperkeratosis, Failure to thrive, Obesity, High, narrow palate	ORPHA:75857
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Wilson Disease	Esophageal varix, Dysphagia, Hepatocellular carcinoma	OMIM:277900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Neonatal dea...	OMIM:265380
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Palmoplantar cutis laxa, Excessive wrinkled skin, Gastrointestinal hemorrhage, Follicular hyperke...	OMIM:225400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Postnatal growth retardation, Hyperkeratosis, Ichthyosis, Slender build	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Postnatal growth retardation, Hyperkeratosis, Ichthyosis, Slender build	ORPHA:363958
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Anal fissure, Gastrointestinal inflammation, Growth delay, Palmoplantar keratoderma, Gastroesopha...	ORPHA:79408
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Xerostomia, Cleft palate, Anteriorly placed anus, Hyperke...	OMIM:604292
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Xerostomia, Cleft palate, Hyperkeratosis, Rectovaginal fistula, Anal atr...	OMIM:129900
Mycetoma	Cobblestone-like hyperkeratosis	ORPHA:2583
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Gabriele-De Vries Syndrome	Small for gestational age, Oral-pharyngeal dysphagia, Esophageal atresia, High palate, Intrauteri...	ORPHA:506358
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Short stature, Postnatal growth retardation, Cleft palate...	OMIM:135900
Severe Generalized Junctional Epidermolysis Bullosa	Growth delay, Esophageal stricture, Failure to thrive, Gastrointestinal inflammation	ORPHA:79404
Dyskeratosis Congenita, X-Linked	Short stature, Esophageal stricture, Intrauterine growth retardation, Oral leukoplakia, Anal muco...	OMIM:305000
Kyphoscoliotic Ehlers-Danlos Syndrome	Short stature, High palate, Follicular hyperkeratosis	ORPHA:536545
Viss Syndrome	Chronic gastritis, Failure to thrive, Duodenitis, Intestinal malrotation, Cleft soft palate, Subm...	OMIM:619472
De Sanctis-Cacchione Syndrome	Parakeratosis, Severe short stature	OMIM:278800
Warburg-Cinotti Syndrome	Erythema, High palate, Follicular hyperkeratosis	OMIM:618175
Leprosy	Hyperkeratosis, Penetrating foot ulcers, Acral ulceration	ORPHA:548
Biliary, Renal, Neurologic, And Skeletal Syndrome	Short stature, Esophageal varix, Gastroesophageal reflux, Neonatal death, Failure to thrive	OMIM:619534
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Charge Syndrome	Anal stenosis, Postnatal growth retardation, Esophageal atresia, Tracheoesophageal fistula, Cleft...	OMIM:214800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Esophageal atresia, Ectopic anus, Disproportionate short-limb short stature, Bifid tongue, Anal a...	ORPHA:93271
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Proteus Syndrome	Thickened skin, Generalized hyperkeratosis, Cachexia	ORPHA:744
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis	ORPHA:276280
Alström Syndrome	Short stature, Esophageal varix, Obesity, Truncal obesity, Gastroesophageal reflux, Acanthosis ni...	ORPHA:64
Familial Multinodular Goiter	Colorectal polyposis	ORPHA:276399

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 Keap1

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 Keap1.

No publications found that use IMPC mice or data for Keap1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Keap1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Keap1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Keap1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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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