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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Cole Disease
Hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615522
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis, Epidermal acanthosis OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Erythema OMIM:617571
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis OMIM:615023
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Epidermal acanthosis OMIM:615598
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling skin, Diffuse pa... ORPHA:530838
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis OMIM:617115
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Dowling-Degos Disease 4
Hypergranulosis, Epidermal acanthosis OMIM:615696
Peeling Skin Syndrome 4
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthoke... OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:617525
Epidermolytic Hyperkeratosis
Scaling skin, Congenital bullous ichthyosiform erythroderma, Epidermal acanthosis, Palmoplantar h... OMIM:113800
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Generalized ichthyosis, Cutis laxa, Scaling skin, Epidermal acanthosi... ORPHA:2269
Psoriasis 2
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis OMIM:602723
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Dysphagia, Epidermal acanthosis, Short stature OMIM:616029
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Acral Peeling Skin Syndrome
Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin, Erythema ORPHA:263534
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Idiopathic Localized Lipodystrophy
Erythema, Scleroderma, Scaling skin, Morphea ORPHA:90158
Basan Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:129200
Bathing Suit Ichthyosis
Ichthyosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Thickened skin, Congenital nonbull... ORPHA:100976
Tylosis With Esophageal Cancer
Esophageal carcinoma, Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Hyperkeratosis, Growth delay, Scaling skin, Erythema, Dry skin OMIM:614457
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Growth delay, Short stature ORPHA:2812
Bazex Syndrome
Palmoplantar keratoderma, Acanthosis nigricans, Hyperkeratosis, Scaling skin, Parakeratosis ORPHA:166113
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Scaling skin, Anal atresia, Small for gestational age, Short stature, Pyloric stenosis, Dry skin OMIM:618419
Irida Syndrome
Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis ORPHA:209981
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Palmoplantar keratoderma OMIM:616295
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Delayed puberty ORPHA:2297
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Scaling skin, Failure to thrive, Dry skin OMIM:609180
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized hyperkeratosis, Palmoplantar keratoderma ORPHA:737
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Palmoplantar keratoderma, Dysphagia, Gastroesophageal reflux, Esopha... ORPHA:2198
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Epidermolysis Bullosa Simplex, Localized
Hyperkeratosis OMIM:131800
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Abnormal epidermal morphology ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Ichthyosis, Hyperkeratosis, Erythema, Congenital ichthyosiform erythroderma, Epi... OMIM:613943
Peeling Skin Syndrome 1
Scaling skin, Short stature, Erythema OMIM:270300
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Abnormal stomach morphology, Ichthyosis, Short stature ORPHA:281090
Immunodeficiency 58
Psoriasiform lesion, Esophagitis, Ichthyosis, Helicobacter pylori infection, Dysphagia, Scaling s... OMIM:618131
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly, Dry skin OMIM:212360
Amyloidosis, Primary Localized Cutaneous, 1
Cutis laxa, Scaling skin, Dry skin OMIM:105250
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Mednik Syndrome
Hyperkeratosis, Abnormal intestine morphology, Ichthyosis ORPHA:171851
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Feingold Syndrome 2
Short stature, Intestinal atresia, Postnatal growth retardation OMIM:614326
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroder... ORPHA:312
Anonychia With Flexural Pigmentation
Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Esophageal stenosis, Esophagea... ORPHA:411696
Olmsted Syndrome, X-Linked
Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Epidermal acanthosis, Paraker... OMIM:300918
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Ichthyosis Vulgaris
Ichthyosis, Absent keratohyalin granules, Dry skin OMIM:146700
Reynolds Syndrome
Dysphagia, Gastroesophageal reflux, Xerostomia, Abnormality of the gastric mucosa, Sclerodactyly,... ORPHA:779
Acquired Ichthyosis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Dry skin ORPHA:454
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Aganglionic megacolon, Follicular hyperkeratosis, Short stature, Cleft palate, Dry ... OMIM:308205
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Darier Disease
Acrokeratosis, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Anal mucosal leukopl... ORPHA:218
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive OMIM:179010
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of ha... ORPHA:498359
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Scaling skin, Parakeratosis ORPHA:284426
Moynahan Syndrome
Hyperkeratosis, Cachexia, Short stature ORPHA:2574
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis ORPHA:89838
Mal De Meleda
Subungual hyperkeratosis, Hyperkeratosis with erythema, Ichthyosis, Diffuse palmoplantar hyperker... ORPHA:87503
Dubin-Johnson Syndrome
Abnormality of the gastric mucosa ORPHA:234
Oculotrichodysplasia
Scaling skin, Dry skin OMIM:257960
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Epidermal acanthosis, S... OMIM:148700
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis ORPHA:79503
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Growth delay, Erythema, Congenital ich... OMIM:242100
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Weight loss, Erythema, Short stature, Dry skin ORPHA:317
Lichen Planopilaris
Hyperkeratosis, Abnormal intestine morphology, Skin ulcer ORPHA:525
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanth... OMIM:133200
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Ichthyosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615022
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Generalized hyperkeratosis, Palmoplantar keratoderma, Erythema ORPHA:495
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Psoriasiform lesion, Villous atrophy, Growth delay, Chronic ... OMIM:614700
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis... ORPHA:157798
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis, Parakeratosis, Congenital nonbull... OMIM:612281
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Esophageal stenosis, Postnatal growth retardation, Colitis OMIM:615190
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Scaling skin, Failure to thrive in infancy OMIM:606367
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Cleft palate ORPHA:494
Cirrhosis, Familial
Esophageal varix OMIM:215600
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Orthokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Pachyonychia Congenita 4
Hyperkeratosis, Palmoplantar keratoderma OMIM:615728
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Intrauterine growth retardation, Growth delay, Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Sjögren-Larsson Syndrome
Ichthyosis, Hyperkeratosis, Erythema, Short stature, Dry skin ORPHA:816
Ramon Syndrome
Hyperkeratosis, Narrow palate, Failure to thrive ORPHA:3019
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Scaling skin, Erythema, Perianal rash, Anal fissure ORPHA:294023
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Follicular hyperkeratosis, Dry skin OMIM:617066
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormal tongue morphology, Palmoplantar keratoderma, Anoperineal fistula, Scaling skin, Follicul... ORPHA:158668
Wolman Disease
Growth delay, Cachexia, Steatorrhea, Esophageal varix ORPHA:75233
Netherton Syndrome
Villous atrophy, Failure to thrive, Parakeratosis, Abnormal intestine morphology, Intestinal atre... OMIM:256500
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Gastroesophageal reflux, Follicular hyperkeratosis, Delayed puberty, High palate, Dry... ORPHA:486815
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Olmsted Syndrome 2
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis, Parakeratosis, Perioral hyperkera... OMIM:619208
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Hyperkeratosis, Tracheoesophageal fistula, Furrowed tongue ORPHA:1839
Acrokeratoelastoidosis Of Costa
Hyperkeratosis, Acrokeratosis ORPHA:38
Fanconi Anemia, Complementation Group Q
Growth delay, Esophageal atresia, Short stature OMIM:615272
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
Singleton-Merten Syndrome 2
Hyperkeratosis, Short stature OMIM:616298
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis, Failure to thrive OMIM:226700
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema OMIM:606545
Ulerythema Ophryogenesis
Follicular hyperkeratosis, Erythema ORPHA:3406
Centrifugal Lipodystrophy
Scaling skin, Erythema ORPHA:90156
Graft Versus Host Disease
Gastrointestinal inflammation, Failure to thrive, Scaling skin, Recurrent gastroenteritis ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Hyperkeratosis, Growth delay, Esophageal varix, Failure to t... OMIM:614576
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Congenital nonbull... OMIM:604777
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Delayed puberty, Celiac disease, Short stature, Postnatal growth retardation OMIM:618985
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Intrauterine growth retardation, Truncal obesity, Small for gestati... ORPHA:96184
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Dysphagia, Growth delay, Abnormal esophagus morphology, Esoph... OMIM:226600
Classic Mycosis Fungoides
Hyperkeratosis, Dry skin, Skin ulcer, Erythema ORPHA:2584
Noonan Syndrome 7
Dysphagia, Growth delay, Abnormal esophagus morphology, Short stature, Impaired oropharyngeal swa... OMIM:613706
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar keratosis with erythema and scale, Esophageal stricture, Erythema ORPHA:158673
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis ORPHA:505
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis OMIM:131850
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Cryptosporidiosis
Gastrointestinal obstruction, Dysphagia, Growth delay, Abnormal esophagus morphology, Weight loss... ORPHA:1549
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Severe short stature, Dry skin ORPHA:2617
Pachyonychia Congenita 1
Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Hypergranulosis, Orthokeratosis, Parakeratosis OMIM:604117
Plummer-Vinson Syndrome
Glossitis, Dysphagia, Esophageal web, Pallor, Tongue atrophy ORPHA:54028
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Failure to thrive OMIM:616069
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Anemic pallor, Rectal polyposis, Hematochezia, Growth delay, Small intes... ORPHA:329971
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Parakeratosis OMIM:615821
Costello Syndrome
Macroglossia, Narrow palate, Acanthosis nigricans, Hyperkeratosis, Redundant skin, Gastroesophage... ORPHA:3071
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Short stature OMIM:618625
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Postnatal growth retardation OMIM:617219
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Trichothiodystrophy 1, Photosensitive
Hyperkeratosis, Small for gestational age, Short stature, Malabsorption, Intestinal obstruction, ... OMIM:601675
Lipoid Proteinosis
Tongue nodules, Hyperkeratosis, Dysphagia, Microglossia, Thickened skin, High palate ORPHA:530
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Dysphagia, Gastroes... ORPHA:1018
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema ORPHA:2841
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Esophageal varix, Weight loss, Malabso... ORPHA:131
Cap Polyposis
Colorectal polyposis, Chronic atrophic gastritis, Weight loss, Hematochezia ORPHA:160148
Popov-Chang syndrome
Hyperkeratosis, Gastroesophageal reflux, Failure to thrive, Short stature, Dry skin OMIM:618428
Vulvovaginal Gingival Syndrome
Erythema, Epidermal acanthosis, Parakeratosis ORPHA:83453
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis, Intrauterine growth retardation OMIM:616553
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Short stature, Esophageal stricture, Palmoplantar hyperkeratosis OMIM:613989
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology, Cleft palate ORPHA:398189
Pityriasis Rubra Pilaris
Hypergranulosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis, Orthokeratosis OMIM:173200
Psoriasis 14, Pustular
Geographic tongue, Erythema, Furrowed tongue, Epidermal acanthosis, Parakeratosis OMIM:614204
Glycogen Storage Disease Iv
Failure to thrive, Esophageal varix OMIM:232500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Esophageal stenosis, Dysphagia, Growth delay, Gastroesophageal reflux, Abnormal es... ORPHA:89842
Leopard Syndrome 3
Hyperkeratosis, Growth delay, Epidermal hyperkeratosis, Short stature, Dry skin OMIM:613707
Porphyria Cutanea Tarda
Hepatocellular carcinoma, Scaling skin ORPHA:101330
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Perianal abscess, Gastritis, Failure to thrive OMIM:618108
Methimazole Embryofetopathy
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Chilblain Lupus
Hyperkeratosis, Skin ulcer ORPHA:90280
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Palmoplantar erythema, Increased body weight, Striae distensae, Parakeratosis, S... ORPHA:64745
Non-Syndromic Posterior Hypospadias
Anal atresia, Small for gestational age, Esophageal atresia, Cleft palate ORPHA:95706
Autoinflammation With Arthritis And Dyskeratosis
Growth delay, Follicular hyperkeratosis, Dry skin, Epidermal acanthosis, Failure to thrive, Palmo... OMIM:617388
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Epidermal acanthosis, Paraker... OMIM:242300
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Lamellar Ichthyosis
Ichthyosis, Hyperkeratosis, Short stature, Lack of skin elasticity, Dry skin ORPHA:313
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma OMIM:613576
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Failure to thrive ORPHA:169154
Odontoonychodermal Dysplasia
Hypergranulosis, Erythema, Epidermal acanthosis, Plantar hyperkeratosis, Smooth tongue, Orthokera... OMIM:257980
Noonan Syndrome 8
Hyperkeratosis, Palmoplantar cutis laxa, Failure to thrive, Short stature, Large for gestational age OMIM:615355
Restrictive Dermopathy
Generalized hyperkeratosis, Dermal translucency, Epidermal hyperkeratosis, Scaling skin, Microcol... ORPHA:1662
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Epidermal hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema OMIM:104100
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Failure to thrive, Short stature OMIM:615279
Riddle Syndrome
Weight loss, Scaling skin, Short stature, Erythema ORPHA:420741
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Dry skin, Short stature, Cleft palate, Tracheoesophageal fistula, Obesity ORPHA:3157
Rat-Bite Fever
Scaling skin, Weight loss, Parotitis ORPHA:31205
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Rare Cutaneous Lupus Erythematosus
Psoriasiform lesion, Follicular hyperkeratosis, Scaling skin, Erythema ORPHA:535
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Ichthyosis, Cutis laxa OMIM:612379
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2698
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Gaucher Disease, Perinatal Lethal
Ichthyosis, Purpura, Hyperkeratosis, Dysphagia, Decreased body weight, Petechiae, Intrauterine gr... OMIM:608013
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Growth delay, Esophageal stricture ORPHA:79409
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Dry skin OMIM:607626
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Cleft palate, Intrauterine growth retardation, Tracheoesophagea... OMIM:614083
Bacterial Toxic-Shock Syndrome
Scaling skin, Ecchymosis ORPHA:36234
Lichen Planus Pemphigoides
Hyperkeratosis, Skin vesicle ORPHA:254478
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis, Postnatal growth retardation, Intrauterine growth retardati... OMIM:246200
Pachyonychia Congenita
Oral leukoplakia, Palmoplantar keratoderma, Palmar hyperkeratosis, Follicular hyperkeratosis, Lin... ORPHA:2309
Ichthyosis With Confetti
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:609165
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Failure to thrive in infancy, Colitis OMIM:301220
Ichthyosis, Hystrix-Like, With Deafness
Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma OMIM:602540
Juvenile Idiopathic Arthritis
Thickened skin, Malabsorption, Generalized hyperkeratosis ORPHA:92
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Severe short stature, Thickened skin, Skin ulcer, Dry skin ORPHA:2526
Hypotrichosis 6
Follicular hyperkeratosis, Erythema OMIM:607903
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Pachyonychia Congenita 3
Oral leukoplakia, Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, Furrowed tongu... OMIM:615726
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Coffin-Siris Syndrome 11
Bifid uvula, High palate, Cleft soft palate, Esophageal atresia OMIM:618779
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Short stature ORPHA:1573
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis ORPHA:158681
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Palmoplantar keratoderma, Acantholysis, Growth delay, Orthokeratosis OMIM:615508
Caroli Disease, Isolated
Esophageal varix OMIM:600643
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Benign Schwannoma
Abnormal parotid gland morphology, Abnormal esophagus morphology, Intestinal polyposis ORPHA:252164
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis ORPHA:89843
Cardiofaciocutaneous Syndrome
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Abnormality of the gastrointestinal tract, ... ORPHA:1340
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Short stature, Delayed puberty OMIM:208060
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Perineal fistula, Growth delay, Gastroesophageal reflux, Intestinal m... ORPHA:2538
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle, Epidermal acanthosis OMIM:613102
Chronic Graft Versus Host Disease
Morphea, Dysphagia, Gastroesophageal reflux, Abnormal esophagus morphology, Esophageal stricture,... ORPHA:99921
Harrod Syndrome
Malrotation of small bowel, Aganglionic megacolon, Failure to thrive, High palate, High, narrow p... OMIM:601095
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Growth delay, Esophageal varix, Delayed puberty, Increased body weight, S... ORPHA:264580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Hepatocellular carcinoma, Growth delay, Esophageal varix, Delayed puberty... ORPHA:370
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma, Dry skin OMIM:308800
Mirage Syndrome
Gastroesophageal reflux, Achalasia, Esophageal stricture, Decreased body weight, Petechiae, Short... OMIM:617053
Lysosomal Acid Lipase Deficiency
Failure to thrive, Esophageal varix, Steatorrhea OMIM:278000
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia OMIM:614526
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Esophageal varix OMIM:263200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hyperkeratosis, Short stature ORPHA:1883
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Palmoplantar keratoderma, Hyperkeratosis, Dysph... ORPHA:2908
Feingold Syndrome
Duodenal atresia, Esophageal atresia, Short stature ORPHA:1305
Ullrich Congenital Muscular Dystrophy 1
Slender build, High palate, Follicular hyperkeratosis, Failure to thrive OMIM:254090
Werner Syndrome
Slender build, Hyperkeratosis, Gastrointestinal carcinoma, Neoplasm of the small intestine, Short... ORPHA:902
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Short stature, Tracheoesophageal fistula, Submucous cleft h... OMIM:619227
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Hyperkeratosis, Severe short stature, Moderate postnatal growth retardation, Intraute... ORPHA:1005
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Tracheoesophageal fistula, Esophageal atresia ORPHA:77298
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Esophageal varix ORPHA:367
Superficial Epidermolytic Ichthyosis
Acantholysis, Ichthyosis, Palmoplantar keratoderma, Erythema ORPHA:455
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Olmsted Syndrome 1
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:614594
Fanconi Anemia, Complementation Group B
Growth delay, Esophageal atresia, Duodenal atresia, Intrauterine growth retardation, Tracheoesoph... OMIM:300514
Harlequin Ichthyosis
Hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythroderma ORPHA:457
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Darier-White Disease
Enlargement of parotid gland, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Kid Syndrome
Oral leukoplakia, Ichthyosis, Generalized hyperkeratosis, Palmoplantar keratoderma, Aganglionic m... ORPHA:477
Rhombencephalosynapsis
Tracheoesophageal fistula, Anal atresia, Aganglionic megacolon, Esophageal atresia ORPHA:59315
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Hyperkeratosis, Erythema, Mild intrauterine growth retardation, Congenital ichthyosif... OMIM:308050
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hyperkeratosis, Weight loss, Thickened skin, Malabsorption ORPHA:79430
Leprechaunism
Acanthosis nigricans, Hyperkeratosis, Severe intrauterine growth retardation, Decreased body weig... ORPHA:508
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Rhizomelia, Hyperkeratosis, Short stature ORPHA:163966
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Dry skin, Short stature, Cleft palate OMIM:601701
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Cartilage-Hair Hypoplasia
Absent pubertal growth spurt, Aganglionic megacolon, Esophageal atresia, Malabsorption, Neonatal ... OMIM:250250
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Xerostomia, Failure to thrive, Dry skin ORPHA:238468
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:602400
Adams-Oliver Syndrome
Failure to thrive, Esophageal varix, Gastrointestinal hemorrhage ORPHA:974
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Dyskeratosis Congenita
Oral leukoplakia, Esophageal stenosis, Palmoplantar keratoderma, Skin vesicle, Intrauterine growt... ORPHA:1775
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hyperkeratosis, Epidermal acanthosis, Failure to thrive in infancy OMIM:612852
Linear Verrucous Nevus Syndrome
Hyperkeratosis ORPHA:2611
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Coach Syndrome 1
Growth delay, Esophageal varix OMIM:216360
Prolidase Deficiency
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Skin ulcer, Dry skin ORPHA:742
Alacrima, Achalasia, And Mental Retardation Syndrome
Hyperkeratosis, Dysphagia, Achalasia OMIM:615510
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Skin ulcer, Short stature ORPHA:1806
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acantholysis, Dysphagia, Weight loss, Esophageal stricture, Erythema ORPHA:36426
Sialidosis Type 1
Hyperkeratosis, Short stature ORPHA:812
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Postnatal growth retardation, Failure to thrive, Cleft palate, Intrauterine growth... ORPHA:83617
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration, Small for gestational age, Short stature, Delayed puberty OMIM:176690
Toxic Epidermal Necrolysis
Intestinal perforation, Gastrointestinal hemorrhage, Acantholysis, Dysphagia, Weight loss, Erythe... ORPHA:537
Immunodeficiency 23
High palate, Failure to thrive, Esophageal stricture, Erythema OMIM:615816
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Failure to thrive, Acantholysis OMIM:607655
Wilson Disease
Dysphagia, Hepatocellular carcinoma, Esophageal varix OMIM:277900
Microphthalmia, Syndromic 3
Short stature, Esophageal atresia, Postnatal growth retardation OMIM:206900
Kindler Syndrome
Oral leukoplakia, Esophageal stenosis, Anal stenosis, Dysphagia, Palmoplantar hyperkeratosis OMIM:173650
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Short stature, Cleft palate OMIM:610536
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Microgastria, Failure to ... OMIM:156810
Cardiofaciocutaneous Syndrome 1
Ichthyosis, Hyperkeratosis, Gastroesophageal reflux, Failure to thrive, Short stature, High palat... OMIM:115150
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hyperkeratosis, Orthokeratosis OMIM:617337
Ramon Syndrome
Hyperkeratosis, Decreased body weight, Narrow palate, Short stature OMIM:266270
Pemphigus Vulgaris
Acantholysis, Weight loss ORPHA:704
Woodhouse-Sakati Syndrome
Delayed puberty, Scaling skin, Growth delay ORPHA:3464
Iga Pemphigus
Skin vesicle, Ulcerative colitis, Acantholysis ORPHA:555905
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Ichthyosis, Oral leukoplakia, Hyperkeratosis OMIM:148210
Chromomycosis
Hyperkeratosis, Hyperkeratotic papule, Hyperparakeratosis ORPHA:182
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis OMIM:601812
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Caroli Disease
Esophageal varix, Cholangiocarcinoma, Weight loss ORPHA:53035
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Growth delay, Esophageal varix, Delayed puberty, Cachexia, Skin ulcer, Ecchymosis ORPHA:2072
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Reactive Arthritis
Inflammation of the large intestine, Hyperkeratosis, Weight loss ORPHA:29207
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Hyperkeratosis, Erythema, Tongue atrophy ORPHA:99
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Bone Marrow Failure Syndrome 3
Intrauterine growth retardation, Failure to thrive, Hyperkeratosis, Short stature OMIM:617052
Noonan Syndrome 10
Hyperkeratosis, High palate, Palmoplantar cutis laxa, Short stature OMIM:616564
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ichthyosis, Hyperkeratosis, Failure to thrive, Short stature, High palate, Large for gestational age OMIM:607721
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis OMIM:262020
Pemphigus Foliaceus
Skin vesicle, Acantholysis, Erythema ORPHA:79481
Monilethrix
Follicular hyperkeratosis ORPHA:573
Neonatal Lupus Erythematosus
Hyperkeratosis, Parakeratosis ORPHA:398124
Trisomy 18
Narrow palate, Growth delay, Esophageal atresia, Anal atresia, Cachexia, Short stature, Cleft pal... ORPHA:3380
Feingold Syndrome Type 1
Gastrointestinal atresia, Jejunal atresia, Esophageal atresia, Duodenal atresia, Anal atresia, Sh... ORPHA:391641
Fanconi Anemia, Complementation Group D2
Anemic pallor, Esophageal atresia, Small for gestational age, Short stature, Tracheoesophageal fi... OMIM:227646
Pseudoxanthoma Elasticum
Cutis laxa, Civatte bodies, Gastrointestinal hemorrhage OMIM:264800
Noonan Syndrome 2
Hyperkeratosis, High palate, Palmoplantar cutis laxa, Short stature OMIM:605275
Apert Syndrome
Narrow palate, Esophageal atresia, Ectopic anus, Cleft palate, Bifid uvula, Pyloric stenosis OMIM:101200
Chronic Actinic Dermatitis
Epidermal acanthosis ORPHA:330064
Porokeratosis
Hyperkeratosis ORPHA:79358
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Esophageal diverticulum, Neonatal death, Anal atresia, Cleft palate OMIM:617925
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Distal Monosomy 12Q
Growth delay, Esophageal atresia, Failure to thrive in infancy, Duodenal atresia, Microglossia, S... ORPHA:96149
Chronic Mucocutaneous Candidiasis
Hyperkeratosis, Skin ulcer, Erythema ORPHA:1334
Williams Syndrome
Macroglossia, Redundant skin, Gastroesophageal reflux, Failure to thrive in infancy, Rectal prola... ORPHA:904
Vacterl With Hydrocephalus
Intrauterine growth retardation, Tracheoesophageal fistula, Anal atresia, Esophageal atresia ORPHA:3412
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Cowden Syndrome
Macroglossia, Generalized hyperkeratosis, Palmoplantar keratoderma, Furrowed tongue, Colorectal p... ORPHA:201
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Pemphigus Erythematosus
Skin vesicle, Acantholysis ORPHA:79480
Apert Syndrome
Narrow palate, Esophageal atresia, Ectopic anus, Cleft palate, Bifid uvula ORPHA:87
Xeroderma Pigmentosum
Hyperkeratosis, Erythema, Failure to thrive, Short stature, Thickened skin, Dry skin ORPHA:910
Chime Syndrome
Ichthyosis, Hyperkeratosis, Erythema, Cleft palate, Skin ulcer ORPHA:3474
Hidrotic Ectodermal Dysplasia, Halal Type
Follicular hyperkeratosis ORPHA:1809
Wolfram Syndrome
Gastric ulcer, Malabsorption, Gastrointestinal hemorrhage, Delayed puberty ORPHA:3463
Eec Syndrome
Hyperkeratosis, Xerostomia, Short stature, Cleft palate, Dry skin ORPHA:1896
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea, Weight loss, Cachexia, Failure to thrive ORPHA:275761
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Esophageal stricture OMIM:224230
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Intestinal polyposis, Gastrointestinal hemorrhage ORPHA:774
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion ORPHA:85436
Maternal Phenylketonuria
Intrauterine growth retardation, High palate, Esophageal atresia ORPHA:2209
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin ulcer, Esophageal varix, Purpura OMIM:615688
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Classic Homocystinuria
High palate, Esophageal varix, Gastrointestinal hemorrhage ORPHA:394
Fabry Disease
Hyperkeratosis, Achalasia, Delayed puberty, Short stature, Malabsorption ORPHA:324
Incontinentia Pigmenti
Hyperkeratosis, Pallor, Short stature, Erythema OMIM:308300
Fucosidosis
Generalized hyperkeratosis, Failure to thrive ORPHA:349
Milroy Disease
Hyperkeratosis ORPHA:79452
Fryns Syndrome
Meckel diverticulum, Stillbirth, Intestinal malrotation, Esophageal atresia, Aganglionic megacolo... OMIM:229850
Naxos Disease
Palmoplantar keratoderma, Epidermal acanthosis, Acantholysis OMIM:601214
Feingold Syndrome 1
High palate, Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:164280
Chondrodysplasia Punctata, Autosomal Dominant
Moderate postnatal growth retardation, Hyperkeratosis with erythema OMIM:118650
Meige Disease
Cobblestone-like hyperkeratosis, Skin ulcer ORPHA:90186
Incontinentia Pigmenti
Hyperkeratosis, Skin ulcer, Short stature, Erythema ORPHA:464
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Growth delay, Esophageal varix, Protein-losing enteropathy, Cholangi... ORPHA:731
Caroli Syndrome
Hematemesis, Esophageal varix, Cholangiocarcinoma, Melena ORPHA:480520
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Ichthyosis, Hyperkeratosis, Growth delay, Aganglionic megacolon, Severe short stature, Erythema, ... ORPHA:2273
6Q Terminal Deletion Syndrome
Hyperkeratosis, High, narrow palate, Failure to thrive, Obesity ORPHA:75857
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Stillbirth, Hyperkeratosis, Failure to thrive, Intrauterine growt... OMIM:210710
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Gastrointestinal inflammation, Dysphagia, Growth delay, Gastroesophageal reflux, D... ORPHA:79408
Vater/Vacterl Association
Esophageal atresia, Postnatal growth retardation, Anal atresia, Failure to thrive, Intrauterine g... OMIM:192350
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Follicular hyperkeratosis OMIM:614557
Atypical Werner Syndrome
Hyperkeratosis, Decreased body weight, Delayed puberty, Neoplasm of the small intestine, Failure ... ORPHA:79474
Hepatocellular Carcinoma
Abnormal rectum morphology, Esophageal varix, Weight loss ORPHA:88673
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Sclerodactyly, Palmoplantar keratoderma OMIM:610644
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Ichthyosis, Hyperkeratosis, Postnatal growth retardation, Small for gestational age ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Ichthyosis, Hyperkeratosis, Postnatal growth retardation, Small for gestational age ORPHA:363958
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hyperkeratosis, Xerostomia, Rectovaginal fistula, Anal atresia, Absence of Stensen duct, Cleft pa... OMIM:129900
Kanzaki Disease
Hyperkeratosis, Dry skin OMIM:609242
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis OMIM:137940
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Esophageal stricture, Short stature, Anal mucosal leukoplakia, Intrauterine gro... OMIM:305000
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Kyphoscoliotic Ehlers-Danlos Syndrome
Follicular hyperkeratosis, High palate, Short stature ORPHA:536545
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Growth delay, Failure to thrive, Esophageal stricture ORPHA:79404
Charge Syndrome
Anal stenosis, Dysphagia, Esophageal atresia, Postnatal growth retardation, Duodenal atresia, Ana... OMIM:214800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Duodenal atresia, Anal atresia, ... OMIM:265380
Restrictive Dermopathy, Lethal
Intrauterine growth retardation, Epidermal hyperkeratosis, Stillbirth, Submucous cleft hard palate OMIM:275210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hyperkeratosis, Xerostomia, Absence of Stensen duct, Cleft palate OMIM:604292
Coffin-Siris Syndrome 1
Gastric ulcer, Intussusception, Intestinal malrotation, Postnatal growth retardation, Short statu... OMIM:135900
Warburg-Cinotti Syndrome
High palate, Follicular hyperkeratosis, Erythema OMIM:618175
Gabriele-De Vries Syndrome
Esophageal atresia, Oral-pharyngeal dysphagia, Small for gestational age, Intrauterine growth ret... ORPHA:506358
Leprosy
Hyperkeratosis, Acral ulceration, Penetrating foot ulcers ORPHA:548
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Ectopic anus, Anal atresia, Bifid tongue, Disproportionate short-limb short s... ORPHA:93271
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis ORPHA:79280
Lymphatic Filariasis
Hyperkeratosis ORPHA:2035
Proteus Syndrome
Thickened skin, Generalized hyperkeratosis, Cachexia ORPHA:744
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Epidermal thickening, Orthokeratotic hyperkeratosis ORPHA:73223
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis ORPHA:276280
Alström Syndrome
Acanthosis nigricans, Delayed menarche, Gastroesophageal reflux, Esophageal varix, Truncal obesit... 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.

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MGI Allele Allele Type Produced
Keap1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Keap1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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