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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 (466 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	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Hyperkeratosis, Congenital nonbullous icht...	OMIM:617571
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h...	OMIM:620507
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Scaling skin,...	ORPHA:530838
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Absence of intrinsic factor	OMIM:243320
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Epidermal acanthosis, Hyperke...	OMIM:607936
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Scaling ...	OMIM:612281
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Scaling sk...	OMIM:607602
Dowling-Degos Disease 4	Epidermal acanthosis, Hypergranulosis	OMIM:615696
Epidermolytic Hyperkeratosis 1	Congenital bullous ichthyosiform erythroderma, Epidermal acanthosis, Palmoplantar hyperkeratosis,...	OMIM:113800
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Epidermal acanthosis, Scaling skin, Generalized...	ORPHA:2269
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Psoriasis 2	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Ichthyosis With Confetti	Ichthyosis, Decreased body weight, Palmoplantar hyperkeratosis, Scaling skin, Short stature, Cong...	OMIM:609165
Acral Peeling Skin Syndrome	Erythema, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin	ORPHA:263534
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Hyperkeratosis, Short stature, Epidermal acanthosis, Dysphagia, Esophag...	OMIM:616029
Idiopathic Localized Lipodystrophy	Erythema, Scleroderma, Scaling skin, Morphea	ORPHA:90158
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Punctate palmoplanta...	OMIM:616295
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the g...	ORPHA:1876
Irida Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Parana Hard Skin Syndrome	Short stature, Thickened skin, Growth delay, Hyperkeratosis	ORPHA:2812
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin, Growth delay, Congenital nonbullous...	OMIM:614457
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Scaling skin, Epidermal a...	ORPHA:100976
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Acral Self-Healing Collodion Baby	Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	ORPHA:90368
Peeling Skin Syndrome 6	Parakeratosis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Insulin-Resistance Syndrome Type A	Delayed puberty, Hyperkeratosis	ORPHA:2297
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Epidermal acanthosis...	OMIM:604777
Bazex Syndrome	Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Hyperkeratosis	ORPHA:166113
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Tylosis With Esophageal Cancer	Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ...	OMIM:148500
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology	ORPHA:79147
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Short stature, Hyperkeratosis, Ichthyosis	ORPHA:281090
Mednik Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis	ORPHA:171851
Palmoplantar Keratoderma And Congenital Alopecia 2	Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis	OMIM:613943
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis, Neonatal death	OMIM:619817
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Intestinal atresia	OMIM:614326
Immunodeficiency 58	Failure to thrive, Esophagitis, Psoriasiform lesion, Ichthyosis, Helicobacter pylori infection, S...	OMIM:618131
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Weight loss, Hyperkeratosis, Congenital bullous...	ORPHA:312
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Follicular hyperkeratosis, Erythema	ORPHA:79100
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
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Anonychia With Flexural Pigmentation	Follicular hyperkeratosis, Hyperkeratosis	ORPHA:69125
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,...	OMIM:615024
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Oral leukoplakia	OMIM:615735
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia, Neonatal death	OMIM:612138
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Palmoplantar keratoderma, Orthokeratosis, H...	ORPHA:79501
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Mal De Meleda	Erythema, Palmoplantar keratoderma, Ichthyosis, Epidermal acanthosis, Nonepidermolytic palmoplant...	ORPHA:87503
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, E...	OMIM:300918
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Gastroesophageal reflux, Failure to thrive, Eosinophilic microabscess formation in the esophagus,...	ORPHA:411696
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Hyperkeratosis	ORPHA:454
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Skin ulcer, Abnormal gastric mucosa morphology, 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	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Epidermal acanthosis, Hyperk...	OMIM:617525
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Pyloric Stenosis, Infantile Hypertrophic, 1	Failure to thrive, Pyloric stenosis	OMIM:179010
Acrokeratosis Verruciformis	Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperker...	OMIM:101900
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin, Hyperkeratosis	OMIM:247100
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Failure to thrive, Scaling skin	OMIM:609180
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Palmoplantar hyperkeratosis, Failure to thrive, Hyperkeratosis	ORPHA:89838
Cutaneous Mastocytoma	Thickened skin, Scaling skin, Erythema	ORPHA:79455
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis	ORPHA:79503
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop...	OMIM:615522
Moynahan Syndrome	Short stature, Cachexia, Hyperkeratosis	ORPHA:2574
Ulerythema Ophryogenesis	Hyperkeratotic papule, Facial erythema, Follicular hyperkeratosis, Dry skin	ORPHA:3406
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Lichen Planopilaris	Abnormal intestine morphology, Hyperkeratosis, Skin ulcer	ORPHA:525
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Erythrokeratodermia Variabilis	Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Weight loss, Short stature, Hyperkeratosis	ORPHA:317
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis, Psoriasiform lesion, Scaling skin	ORPHA:284426
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat...	OMIM:148700
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Generalized hyperkerat...	OMIM:133200
Diffuse Cutaneous Mastocytosis	Thickened skin, Gastrointestinal hemorrhage, Scaling skin	ORPHA:79456
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis	OMIM:615190
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate	OMIM:137215
X-Linked Dominant Chondrodysplasia Punctata	Ichthyosis, Severe postnatal growth retardation, Scaling skin, Short stature, High palate	ORPHA:35173
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Palmoplantar keratoderma, Ichthyosis, Hypergranulosis	OMIM:615022
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Gastric diverticulum, Adenomatous coloni...	ORPHA:157798
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Villous atrophy, Psor...	OMIM:614700
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Darier Disease	Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrokeratosis, Skin...	ORPHA:218
Portal Hypertension, Noncirrhotic, 1	Esophageal varix	OMIM:617068
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Gastroesophageal reflux, Dry skin, Follicular hyperkeratosis, Delayed puberty, High palate, Overw...	ORPHA:486815
Sjögren-Larsson Syndrome	Erythema, Dry skin, Ichthyosis, Short stature, Hyperkeratosis	ORPHA:816
Keratoderma Hereditarium Mutilans	Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cleft palate	ORPHA:494
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Hypergranulosis, Ichthyosis, Eosinop...	OMIM:615508
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Ectodermal Dysplasia-Skin Fragility Syndrome	Anoperineal fistula, Failure to thrive, Palmoplantar keratoderma, Abnormal tongue morphology, Fol...	ORPHA:158668
Ectodermal Dysplasia/Skin Fragility Syndrome	Palmoplantar hyperkeratosis, Scaling skin	OMIM:604536
Peeling Skin Syndrome 1	Short stature, Scaling skin	OMIM:270300
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis, Dysphagia	OMIM:612379
Wolman Disease	Steatorrhea, Cachexia, Growth delay, Esophageal varix	ORPHA:75233
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Failure to thrive in infancy, Villous atrophy, Scaling skin	OMIM:606367
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar keratoderma, Failure to thrive, Palmoplantar scaling skin, Palmoplantar erythema, Pa...	OMIM:605676
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Scaling skin, Short stature, Anal atresia, Small for gestational age, Pyloric stenosis	OMIM:618419
Recessive X-Linked Ichthyosis	Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:461
Acrokeratosis Verruciformis Of Hopf	Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:79151
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Ramon Syndrome	Narrow palate, Hyperkeratosis, Failure to thrive	ORPHA:3019
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Epidermal ac...	ORPHA:38
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Ep...	OMIM:619208
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Singleton-Merten Syndrome 2	Short stature, Psoriasiform lesion, Hyperkeratosis	OMIM:616298
White Sponge Nevus 2	Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Hyper...	OMIM:242100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous icht...	OMIM:615023
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Tracheoesophageal fistula, Esophageal atresia	OMIM:189960
Kid Syndrome	Palmoplantar keratoderma, Failure to thrive, Congenital ichthyosiform erythroderma, Postnatal gro...	ORPHA:477
Portal Hypertension, Noncirrhotic, 2	Ecchymosis, Petechiae, Esophageal varix, Hepatocellular carcinoma	OMIM:619463
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Hyperkeratosis	ORPHA:1839
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hype...	OMIM:618527
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Intrauterine growth retardation, Gastrointestinal hemorrhage, Growth delay, Esophageal varix	OMIM:617341
Retinitis Pigmentosa 89	Esophageal varix	OMIM:618955
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Failure to thrive, Dry skin, Intrauterine growth retardation...	OMIM:614576
Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration	OMIM:614266
Acute Radiation Syndrome	Hyperkeratosis, Skin ulcer, Scaling skin	ORPHA:454831
Pemphigus Foliaceus	Erythema, Acantholysis, Skin vesicle, Scaling skin	ORPHA:79481
Mpdu1-Cdg	Ichthyosis, Scaling skin	ORPHA:79323
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Palmoplantar hyperkeratosis, Esophageal stricture	ORPHA:158673
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Anal fissure, Perianal dermatitis, Recurrent gastroenteritis, Scaling skin	ORPHA:294023
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Ep...	OMIM:242300
Proteus Syndrome	Epidermal acanthosis, Hyperkeratosis	OMIM:176920
Graft Versus Host Disease	Scaling skin, Recurrent gastroenteritis, Failure to thrive, Gastrointestinal inflammation	ORPHA:39812
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Dry skin, Palmoplantar keratoderma, Scaling skin	OMIM:618373
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Short stature, Celiac disease, Delayed puberty, Postnatal growth retardation	OMIM:618985
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Hyperkeratosis, Failure to thrive	OMIM:301108
Cap Polyposis	Atrophic gastritis, Hematochezia, Weight loss, Colorectal polyposis	ORPHA:160148
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Growth delay, Esophageal stricture, Abnormal esophagus morphology, Dysphagia, Spontaneous esophag...	OMIM:226600
Noonan Syndrome 7	Growth delay, Large for gestational age, Abnormal esophagus morphology, Short stature, Dysphagia,...	OMIM:613706
Epidermolysis Bullosa, Junctional 1B, Severe	Failure to thrive, Pyloric stenosis	OMIM:226700
Hereditary Sensory And Autonomic Neuropathy Type 1	Gastroesophageal reflux, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Cholesteryl Ester Storage Disease	Esophageal varix	ORPHA:75234
Plummer-Vinson Syndrome	Pallor, Esophageal web, Dysphagia, Glossitis, Tongue atrophy	ORPHA:54028
Centrifugal Lipodystrophy	Erythema, Scaling skin	ORPHA:90156
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Classic Mycosis Fungoides	Erythema, Hyperkeratosis, Skin ulcer, Dry skin	ORPHA:2584
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Netherton Syndrome	Failure to thrive, Recurrent infection of the gastrointestinal tract, Villous atrophy, Parakerato...	OMIM:256500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, High palate, Follicular hyperkeratosis	OMIM:617066
Variegate Porphyria, Childhood-Onset	Increased fecal protoporphyrin concentration, Epidermal hyperkeratosis	OMIM:620483
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Dry skin, Congenital pyloric atresia	ORPHA:2617
Rothmund-Thomson Syndrome, Type 1	Short stature, Hyperkeratosis	OMIM:618625
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Gastroesophageal reflux, Growth delay, Failure to thrive, Anal fissure, Esophageal stricture, Ank...	ORPHA:89842
Dyskeratosis Congenita, Autosomal Dominant 6	Intrauterine growth retardation, Oral leukoplakia, Esophageal stenosis	OMIM:616553
Recon Progeroid Syndrome	Short stature, Dry skin, Growth delay, Scaling skin	OMIM:620370
Costello Syndrome	Gastroesophageal reflux, Failure to thrive in infancy, Redundant skin, Lack of skin elasticity, A...	ORPHA:3071
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosi...	OMIM:602540
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:606545
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Failure to thrive, Abnormal gastrointestinal tract morphology, Esophagea...	ORPHA:1018
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
Acute Generalized Exanthematous Pustulosis	Skin vesicle, Acantholysis, Purpura, Scaling skin	ORPHA:293173
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Hyperkeratosis	OMIM:615821
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Porphyria Cutanea Tarda	Increased fecal porphyrin, Scaling skin, Hepatocellular carcinoma	ORPHA:101330
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Inflammation of the large intestine, Failure to thrive, Gastritis	OMIM:618108
Dowling-Degos Disease	Hyperkeratotic papule, Skin vesicle, Hyperkeratosis, Anal margin squamous cell carcinoma	ORPHA:79145
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia	OMIM:167200
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Lipoid Proteinosis	Thickened skin, Microglossia, Hyperkeratosis, High palate, Dysphagia, Tongue nodules	ORPHA:530
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Hyperkeratosis	ORPHA:163525
Basan Syndrome	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:129200
Leopard Syndrome 3	Dry skin, Hyperkeratosis, Short stature, Growth delay, Epidermal hyperkeratosis	OMIM:613707
Non-Syndromic Posterior Hypospadias	Anal atresia, Esophageal atresia, Small for gestational age, Cleft palate	ORPHA:95706
Fanconi Anemia, Complementation Group Q	Short stature, Esophageal atresia, Anteriorly placed anus, Growth delay	OMIM:615272
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Intestinal obstruction, Weight loss, E...	ORPHA:131
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Short stature, Hyperkeratosis	ORPHA:313
Methimazole Embryofetopathy	Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia	ORPHA:1923
Vulvovaginal Gingival Syndrome	Parakeratosis, Epidermal acanthosis, Erythema	ORPHA:83453
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Hyperkeratosis	OMIM:610227
Chilblain Lupus	Hyperkeratosis, Skin ulcer	ORPHA:90280
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae, Increased body weight, Parakeratosis, Palmoplantar erythema, Facial erythema, S...	ORPHA:64745
Ectodermal Dysplasia-Syndactyly Syndrome 2	Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Immunodeficiency 12	Short stature, Growth delay, Esophageal stricture, Decreased body weight	OMIM:615468
Psoriasis 14, Pustular	Erythema, Furrowed tongue, Parakeratosis, Geographic tongue, Epidermal acanthosis	OMIM:614204
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Glycogen Storage Disease Iv	Failure to thrive, Esophageal varix	OMIM:232500
Dyskeratosis Congenita, Autosomal Recessive 8	Inflammation of the large intestine, Oral leukoplakia, Intrauterine growth retardation, Petechiae...	OMIM:620133
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Cleft palate	ORPHA:398189
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Schopf-Schulz-Passarge Syndrome	Dry skin, Palmoplantar keratoderma, Hyperkeratosis	OMIM:224750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Esophageal varix	OMIM:620367
Septo-Optic Dysplasia Spectrum	Dry skin, Obesity, Tracheoesophageal fistula, Esophageal atresia, Short stature, Cleft palate	ORPHA:3157
Noonan Syndrome 8	Failure to thrive, Large for gestational age, Palmoplantar cutis laxa, Short stature, Hyperkeratosis	OMIM:615355
Cardiofaciocutaneous Syndrome 3	Short stature, Hyperkeratosis, Failure to thrive	OMIM:615279
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Dry skin, Intestinal obstruction, Short stature, Hyperkeratosis, Conge...	OMIM:601675
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal ac...	OMIM:617388
Gaucher Disease, Perinatal Lethal	Intrauterine growth retardation, Ichthyosis, Petechiae, Decreased body weight, Neonatal death, Pu...	OMIM:608013
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Dry skin, Facial erythema, Scaling skin, Sclerodactyly	ORPHA:1010
Pachyonychia Congenita	Palmoplantar keratoderma, Oral leukoplakia, Failure to thrive, Linear arrays of macular hyperkera...	ORPHA:2309
Ornithine Transcarbamylase Deficiency	Pyloric stenosis	ORPHA:664
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Failure to thrive	ORPHA:169154
Ichthyosis Prematurity Syndrome	Generalized ichthyosis, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:608649
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odynop...	OMIM:147060
Adams-Oliver Syndrome 6	Esophageal varix	OMIM:616589
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Smooth tongue, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmop...	OMIM:257980
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Esophageal ulceration	OMIM:618372
Recessive Dystrophic Epidermolysis Bullosa Inversa	Growth delay, Gastrointestinal inflammation, Esophageal stricture	ORPHA:79409
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Dry skin, Neonatal death, Aganglionic megacolo...	OMIM:308205
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Restrictive Dermopathy	Microcolon, Generalized hyperkeratosis, Intrauterine growth retardation, Submucous cleft hard pal...	ORPHA:1662
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma	ORPHA:64743
Riddle Syndrome	Short stature, Erythema, Weight loss, Scaling skin	ORPHA:420741
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short stature, Tracheoesophageal fistula, Esophageal atresia, Neonatal death	OMIM:619859
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Arteriosclerosis, Severe Juvenile	Short stature, Delayed puberty, Gastric ulcer	OMIM:208060
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Failure to thrive	OMIM:616069
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Colitis, Hyperkeratosis	OMIM:301220
Rat-Bite Fever	Weight loss, Scaling skin, Parotitis	ORPHA:31205
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Oral leukoplakia, Palmoplantar hyperkeratosis, Short stature, Esophageal stric...	OMIM:613989
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis	ORPHA:254478
Congenital Syphilis	Intrauterine growth retardation, Palmoplantar scaling skin, Petechiae, High palate, Purpura	ORPHA:499009
Hidrotic Ectodermal Dysplasia	Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,...	ORPHA:189
Werner Syndrome	Gastrointestinal carcinoma, Skin ulcer, Slender build, Neoplasm of the small intestine, Lack of s...	ORPHA:902
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Esophagitis, Pe...	ORPHA:2538
Donohue Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Severe failure to thrive, Acanthos...	OMIM:246200
Hypotrichosis 6	Erythema, Follicular hyperkeratosis	OMIM:607903
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Failure to thrive in infancy, Functional abnormality of the gastrointes...	ORPHA:1340
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Coffin-Siris Syndrome 11	Bifid uvula, High palate, Cleft soft palate, Esophageal atresia	OMIM:618779
Hypotrichosis With Juvenile Macular Degeneration	Short stature, Hyperkeratosis	ORPHA:1573
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Benign Schwannoma	Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology	ORPHA:252164
Bacterial Toxic-Shock Syndrome	Scaling skin, Ecchymosis	ORPHA:36234
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Skin vesicle, Erythema migrans	ORPHA:158681
Aspergillosis	Abnormal esophagus morphology	ORPHA:1163
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis	ORPHA:89843
Chronic Graft Versus Host Disease	Thickened skin, Erythema, Gastroesophageal reflux, Xerostomia, Skin ulcer, Abnormal esophagus phy...	ORPHA:99921
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Thickened skin, Skin ulcer, Dry skin, Scaling skin	ORPHA:2526
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Restrictive Dermopathy 1	Intrauterine growth retardation, Submucous cleft hard palate, Neonatal death, Scaling skin, Still...	OMIM:275210
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Esophageal varix	ORPHA:367
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Achalasia, Dysphagia, Esophageal stenosis, Hyperkeratosis	OMIM:615510
Mirage Syndrome	Gastroesophageal reflux, Intrauterine growth retardation, Petechiae, Decreased body weight, Achal...	OMIM:617053
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Anal atresia, Tracheoesophageal fistula, Esophageal atresia, Neonatal death	OMIM:314390
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Congenital Disorder Of Glycosylation, Type Im	Ichthyosis, Dry skin, Hyperkeratosis, Failure to thrive	OMIM:610768
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma, Dry skin	OMIM:308800
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Increased body weight, Delayed puberty, Short stature, Hepatocellular adenoma,...	ORPHA:264580
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Failure to thrive, Dry skin, Cleft soft palate, Ichthyosis, Cutis laxa, Facial erythema...	OMIM:619503
Ullrich Congenital Muscular Dystrophy 1A	Slender build, High palate, Follicular hyperkeratosis, Failure to thrive	OMIM:254090
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia	OMIM:614526
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Short stature, Hyperkeratosis	ORPHA:1883
Kindler Epidermolysis Bullosa	Erythema, Inflammation of the large intestine, Palmoplantar keratoderma, Esophagitis, Abnormality...	ORPHA:2908
Harlequin Ichthyosis	Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma	ORPHA:457
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Short stature, Duoden...	OMIM:619227
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Tracheoesophageal fistula, Esophageal atresia, Growth delay	ORPHA:77298
Superficial Epidermolytic Ichthyosis	Erythema, Acantholysis, Palmoplantar keratoderma, Ichthyosis	ORPHA:455
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Furrowed tongue, Follicular hyperkeratosis, Palmar hy...	OMIM:615726
Fanconi Anemia, Complementation Group B	Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Growth delay, Duo...	OMIM:300514
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Moderate postnatal growth retardation, Intrauterine growth retardation, Ich...	ORPHA:1005
Cholesteryl Ester Storage Disease	Steatorrhea, Failure to thrive, Esophageal varix	OMIM:278000
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin, Hyperkeratosis	ORPHA:1028
Feingold Syndrome	Short stature, Esophageal atresia, Duodenal atresia	ORPHA:1305
Darier-White Disease	Subungual hyperkeratotic fragments, Acantholysis, Enlargement of parotid gland, Acrokeratosis	OMIM:124200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Parakeratosis, Stillbirth, Short...	OMIM:308050
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Epiderma...	OMIM:601214
Hypohidrotic Ectodermal Dysplasia	Dry skin, Xerostomia, Failure to thrive, Hyperkeratosis	ORPHA:238468
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short stature, Intrauterine growth retardation, Rhizomelia, Hyperkeratosis	ORPHA:163966
Lymphatic Malformation 12	Hyperkeratosis, Neonatal death	OMIM:620014
Coach Syndrome 1	Growth delay, Esophageal varix	OMIM:216360
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Rhombencephalosynapsis	Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Esophageal atresia	ORPHA:59315
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Epidermal acanthosis, Hyperkeratosis	OMIM:612852
Leprechaunism	Megarectum, Thickened skin, Failure to thrive, Postnatal growth retardation, Decreased body weigh...	ORPHA:508
Dyskeratosis Congenita	Palmoplantar keratoderma, Oral leukoplakia, Skin ulcer, Intrauterine growth retardation, Skin ves...	ORPHA:1775
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Hyperkeratosis	ORPHA:742
Stevens-Johnson Syndrome	Erythema, Gastrointestinal hemorrhage, Weight loss, Acantholysis, Dysphagia, Esophageal stricture	ORPHA:36426
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Esophageal varix	ORPHA:974
Cirrhosis, Familial	Esophageal varix	OMIM:215600
Arthrogryposis And Ectodermal Dysplasia	Short stature, Dry skin, Hyperkeratosis, Cleft palate	OMIM:601701
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Cleft palate	OMIM:617337
Huriez Syndrome	Epidermal acanthosis, Congenital palmoplantar hyperkeratosis	OMIM:181600
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Parakeratosis, Epidermal acanthosis	OMIM:607626
Dyskeratosis Congenita, Autosomal Dominant 3	Gastrointestinal hemorrhage, Oral leukoplakia, Dry skin, Intrauterine growth retardation, Short s...	OMIM:613990
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Hyperkeratosis, Skin ulcer	ORPHA:1806
Adams-Oliver Syndrome 5	Esophageal varix	OMIM:616028
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Immunodeficiency 23	Erythema, High palate, Failure to thrive, Esophageal stricture	OMIM:615816
Sialidosis Type 1	Short stature, Hyperkeratosis	ORPHA:812
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Kindler Syndrome	Anal stenosis, Oral leukoplakia, Palmoplantar hyperkeratosis, Dysphagia, Esophageal stenosis	OMIM:173650
Dyskeratosis Congenita, Autosomal Recessive 1	Palmoplantar hyperkeratosis, Oral leukoplakia, Esophageal stricture	OMIM:224230
Cholestasis, Progressive Familial Intrahepatic, 8	Esophageal varix	OMIM:619662
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix, Neonatal death	OMIM:263200
Poikiloderma With Neutropenia	Palmoplantar keratoderma, Hyperkeratosis, Short stature, Plantar hyperkeratosis, Growth delay	OMIM:604173
Parkes Weber Syndrome	Skin ulcer, Scaling skin	ORPHA:90307
Mandibulofacial Dysostosis, Guion-Almeida Type	Short stature, Esophageal atresia, Cleft palate	OMIM:610536
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, Failure to thrive, Ichthyosis, Submucous cleft hard palate, Short statur...	OMIM:115150
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Ichthyosis, Furrowed tongue, Hyperkeratosis, Oral leukoplakia	OMIM:148210
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr...	ORPHA:141127
Ramon Syndrome	Short stature, Narrow palate, Hyperkeratosis, Decreased body weight	OMIM:266270
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc...	ORPHA:512
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Parakeratosis, ...	ORPHA:83617
Chromomycosis	Hyperkeratotic papule, Hyperkeratosis, Hyperparakeratosis	ORPHA:182
Caroli Disease	Weight loss, Cholangiocarcinoma, Esophageal varix	ORPHA:53035
Rajab Interstitial Lung Disease With Brain Calcifications 1	Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Slender build, Intrauterine g...	OMIM:613658
Cartilage-Hair Hypoplasia	Anal stenosis, Absent pubertal growth spurt, Neonatal short-limb short stature, Aganglionic megac...	OMIM:250250
Noonan Syndrome 10	Short stature, Palmoplantar cutis laxa, High palate, Hyperkeratosis	OMIM:616564
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Failure to thrive, Large for gestational age, Ichthyosis, Short stature, High palate, Hyperkeratosis	OMIM:607721
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Adenocarcinoma of the colon, Hyperkeratosis	OMIM:620189
Hermansky-Pudlak Syndrome	Thickened skin, Gastrointestinal hemorrhage, Weight loss, Hyperkeratosis	ORPHA:79430
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Neonatal Lupus Erythematosus	Parakeratosis, Hyperkeratosis	ORPHA:398124
Reactive Arthritis	Inflammation of the large intestine, Weight loss, Hyperkeratosis	ORPHA:29207
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Skin ulcer, Ecchymosis, Cachexia, Delayed puberty, Growth delay, Gastric ulcer, Esophageal varix	ORPHA:2072
Chronic Mucocutaneous Candidiasis	Erythema, Hyperkeratosis, Skin ulcer	ORPHA:1334
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Kawasaki Disease	Glossitis, Strawberry tongue, Palmoplantar erythema, Scaling skin on fingertip	ORPHA:2331
Progeroid Short Stature With Pigmented Nevi	Short stature, Delayed puberty, Small for gestational age, Esophageal ulceration	OMIM:176690
Woodhouse-Sakati Syndrome	Delayed puberty, Scaling skin, Growth delay	ORPHA:3464
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Trisomy 18	Intrauterine growth retardation, Cachexia, Anal atresia, Esophageal atresia, Short stature, Narro...	ORPHA:3380
Hardikar Syndrome	Failure to thrive, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Unilateral ...	OMIM:301068
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Short stature, Anal atresia, Duode...	ORPHA:391641
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Cutis laxa, Civatte bodies	OMIM:264800
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Gro...	OMIM:614083
Trichorhinophalangeal Syndrome, Type Iii	Short stature, Epidermal hyperkeratosis	OMIM:190351
Bone Marrow Failure Syndrome 3	Short stature, Intrauterine growth retardation, Hyperkeratosis, Failure to thrive	OMIM:617052
Fanconi Anemia, Complementation Group D2	Anemic pallor, Tracheoesophageal fistula, Esophageal atresia, Short stature, Small for gestationa...	OMIM:227646
Vacterl With Hydrocephalus	Intrauterine growth retardation, Anal atresia, Tracheoesophageal fistula, Esophageal atresia	ORPHA:3412
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Chronic Actinic Dermatitis	Epidermal acanthosis	ORPHA:330064
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss, Steatorrhea, Esophageal varix	ORPHA:275761
Williams Syndrome	Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Failure to thrive in infancy, Obesity...	ORPHA:904
Cowden Syndrome	Palmoplantar keratoderma, Failure to thrive, Generalized hyperkeratosis, Furrowed tongue, Colorec...	ORPHA:201
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Distal Deletion 12Q	High, narrow palate, Microglossia, Failure to thrive in infancy, Obesity, Esophageal atresia, Sho...	ORPHA:96149
Apert Syndrome	Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Cleft palate	ORPHA:87
Xeroderma Pigmentosum	Thickened skin, Erythema, Failure to thrive, Dry skin, Short stature, Hyperkeratosis	ORPHA:910
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Hamartoma of tongue, Neonatal death, Anal atresia, Esophageal diverticulum, Cleft palate	OMIM:617925
Premature Aging Syndrome, Penttinen Type	Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Failure to thrive	OMIM:601812
Wolfram Syndrome	Gastrointestinal hemorrhage, Delayed puberty, Gastric ulcer	ORPHA:3463
Chime Syndrome	Erythema, Skin ulcer, Ichthyosis, Hyperkeratosis, Cleft palate	ORPHA:3474
Van Esch-O'Driscoll Syndrome	Bifid uvula, Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Shor...	OMIM:301030
Primary Biliary Cholangitis	Gastrointestinal inflammation, Steatorrhea, Celiac disease, Esophageal varix, Hepatocellular carc...	ORPHA:186
Apert Syndrome	Bifid uvula, Rhizomelic arm shortening, Ectopic anus, Esophageal atresia, Narrow palate, Cleft pa...	OMIM:101200
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Congenital Tracheomalacia	Gastroesophageal reflux, Failure to thrive, Cutis laxa, Tracheoesophageal fistula, Esophageal atr...	ORPHA:95430
Fucosidosis	Failure to thrive, Generalized hyperkeratosis	ORPHA:349
Eec Syndrome	Xerostomia, Dry skin, Short stature, Hyperkeratosis, Cleft palate	ORPHA:1896
Maternal Phenylketonuria	Intrauterine growth retardation, High palate, Esophageal atresia	ORPHA:2209
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, High palate, Esophageal varix	ORPHA:394
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Skin ulcer, Esophageal varix	OMIM:615688
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Fryns Syndrome	Meckel diverticulum, Intestinal malrotation, Large for gestational age, Aganglionic megacolon, Es...	OMIM:229850
Incontinentia Pigmenti	Short stature, Erythema, Hyperkeratosis, Skin ulcer	ORPHA:464
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Incontinentia Pigmenti	Short stature, Erythema, Hyperkeratosis, Pallor	OMIM:308300
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Follicular hyperkeratosis, Melena	OMIM:158310
Noonan Syndrome 2	Redundant neck skin, Palmoplantar cutis laxa, Short stature, High palate, Hyperkeratosis	OMIM:605275
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency, Epidermal hyperkeratosis	OMIM:137940
Microphthalmia, Syndromic 3	Short stature, Postnatal growth retardation, Esophageal atresia	OMIM:206900
Bethlem Muscular Dystrophy	Hyperkeratosis	ORPHA:610
Milroy Disease	Hyperkeratosis	ORPHA:79452
Vater/Vacterl Association	Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Tracheoesophage...	OMIM:192350
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Disproportionate short stature, Gastroesophageal reflux, Failure to thrive, Dry skin, Intrauterin...	OMIM:210710
Caroli Syndrome	Hematemesis, Cholangiocarcinoma, Esophageal varix, Melena	ORPHA:480520
Meige Disease	Cobblestone-like hyperkeratosis, Skin ulcer	ORPHA:90186
6Q Terminal Deletion Syndrome	High, narrow palate, Obesity, Hyperkeratosis, Failure to thrive	ORPHA:75857
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Esophageal varix	ORPHA:309854
Atypical Werner Syndrome	Failure to thrive, Skin ulcer, Decreased body weight, Neoplasm of the small intestine, Lack of sk...	ORPHA:79474
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Senior-Boichis Syndrome	Esophageal varix	ORPHA:84081
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Erythema, Failure to thrive, Ichthyosis, Aganglionic megacolon, Hyperkerato...	ORPHA:2273
Arima Syndrome	Growth delay, Esophageal varix	OMIM:243910
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Moderate postnatal growth retardation	OMIM:118650
Feingold Syndrome 1	Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointestinal atresia, High pa...	OMIM:164280
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform lesion	ORPHA:85436
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Gastrointestinal hemorrhage, Growth delay, Hepatoblastoma, Cholangioc...	ORPHA:731
Fabry Disease	Short stature, Delayed puberty, Achalasia, Hyperkeratosis	ORPHA:324
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Xerostomia, Anteriorly placed anus, Absence of Stensen duct, Hyperkeratosis, Cleft...	OMIM:604292
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	Slender build, Postnatal growth retardation, Ichthyosis, Hyperkeratosis, Small for gestational age	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Postnatal growth retardation, Ichthyosis, Hyperkeratosis, Small for gestational age	ORPHA:363958
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Palmoplantar cutis laxa, Gastrointestinal hemorrhage, Follicular hyperkeratosis, Excessive wrinkl...	OMIM:225400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Neonatal death...	OMIM:265380
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Absence of Stensen duct, Anal atresia, Rectovaginal fistula, Hyperkeratosis, Cleft pa...	OMIM:129900
Kanzaki Disease	Dry skin, Hyperkeratosis, Petechiae	OMIM:609242
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cutis laxa, Cleft soft palate, Follicular hyperkeratosis	OMIM:614557
Mycetoma	Cobblestone-like hyperkeratosis	ORPHA:2583
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastroesophageal reflux, Growth delay, Anal fissure, Ankyloglossia, Delayed puberty, Gastrointest...	ORPHA:79408
Wilson Disease	Dysphagia, Esophageal varix, Hepatocellular carcinoma	OMIM:277900
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Intrauterine growth retardation, Esophageal atresia, High palate, Smal...	ORPHA:506358
Coffin-Siris Syndrome 1	Intestinal malrotation, Postnatal growth retardation, Intrauterine growth retardation, Short stat...	OMIM:135900
Severe Generalized Junctional Epidermolysis Bullosa	Failure to thrive, Growth delay, Gastrointestinal inflammation, Esophageal stricture	ORPHA:79404
Dyskeratosis Congenita, X-Linked	Oral leukoplakia, Intrauterine growth retardation, Anal mucosal leukoplakia, Short stature, Esoph...	OMIM:305000
Viss Syndrome	High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Failure to thrive, Celiac...	OMIM:619472
Kyphoscoliotic Ehlers-Danlos Syndrome	Short stature, High palate, Follicular hyperkeratosis	ORPHA:536545
Warburg-Cinotti Syndrome	Erythema, High palate, Follicular hyperkeratosis	OMIM:618175
De Sanctis-Cacchione Syndrome	Severe short stature, Parakeratosis	OMIM:278800
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Gastrointestinal arteri...	ORPHA:774
Leprosy	Hyperkeratosis, Acral ulceration, Penetrating foot ulcers	ORPHA:548
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Biliary, Renal, Neurologic, And Skeletal Syndrome	Gastroesophageal reflux, Failure to thrive, Neonatal death, Short stature, Esophageal varix	OMIM:619534
Charge Syndrome	Anal stenosis, Postnatal growth retardation, Tracheoesophageal fistula, Esophageal atresia, Delay...	OMIM:214800
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Ectopic anus, Esophageal atresia, Bifid tongue, Anal a...	ORPHA:93271
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Orthokeratotic hyperkeratosis, Epidermal thickening	ORPHA:73223
Proteus Syndrome	Thickened skin, Cachexia, Generalized hyperkeratosis	ORPHA:744
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis	ORPHA:276280
Alström Syndrome	Gastroesophageal reflux, Delayed menarche, Obesity, Acanthosis nigricans, Truncal obesity, Short ...	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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