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Gene: Krt36 MGI:109364

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

keratin 36

Synonyms:

HRa-1, keratin 5, Krt1-5, Krt1-22

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 Krt36 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 Krt36 (0 diseases)
Human diseases predicted to be associated with Krt36 (424 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Krt36 by phenotypic similarity.

Disease	Matching phenotypes	Source
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Palmoplantar Keratoderma, Punctate Type Ii	Porokeratosis, Spinous keratoses of palms and soles	OMIM:175860
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition	OMIM:617756
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Tongue, Pigmented Fungiform Papillae Of	Abnormality of the tongue	OMIM:275250
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Gingival overgrowth, Focal friction-related palmoplantar hyperkeratosis...	ORPHA:2200
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos...	OMIM:148500
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Anonychia With Flexural Pigmentation	Carious teeth, Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis	ORPHA:79503
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Oral mucosal blisters, Abnormality of the dentition, Hyperkeratosis, Palm...	ORPHA:79399
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:311895
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous...	OMIM:613576
Pachyonychia Congenita 1	Follicular hyperkeratosis, Oral leukoplakia, Palmoplantar hyperkeratosis	OMIM:167200
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma...	OMIM:615023
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P...	OMIM:619208
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hyperkeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters	ORPHA:89838
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli...	OMIM:615726
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Lipoid Proteinosis	Abnormal oral mucosa morphology, Thickened skin, Abnormality of the gingiva, Thick lower lip verm...	ORPHA:530
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Mednik Syndrome	Hyperkeratosis, Abnormal intestine morphology, Ichthyosis	ORPHA:171851
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma	ORPHA:312
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma	ORPHA:498359
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Irida Syndrome	Hyperkeratosis, Abnormal intestine morphology, Ichthyosis	ORPHA:209981
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Hyperkeratosis, Tooth agenesis, Palmoplantar keratoderma, Ichthyosis, Gingival rec...	OMIM:615821
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Cleft palate, Ichthyosis	ORPHA:494
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Oral leukoplakia	OMIM:615735
Acquired Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:602540
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Cleft palate, Abnormality of the dentition	ORPHA:3104
Bazex Syndrome	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans, Lip hyperpigmentation	ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Everted lower ...	OMIM:242300
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Oral mucosal blisters, Abnormality of the dentition, Palmar hyperkeratosi...	ORPHA:79397
Psoriasis 2	Hyperkeratosis, Parakeratosis	OMIM:602723
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo...	OMIM:616029
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:3406
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis, Conical tooth	OMIM:618625
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Thickened skin, Palmoplantar keratoderma, Ichthyosis, Abnormal oral cav...	ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Flynn-Aird Syndrome	Carious teeth, Hyperkeratosis	OMIM:136300
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyperkeratosis,...	OMIM:616295
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Acquired Hypertrichosis Lanuginosa	Thickened skin, Macroglossia, Ichthyosis, Acanthosis nigricans, Glossitis	ORPHA:2221
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Auriculocondylar Syndrome 2A	Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:614669
Lichen Planus Pemphigoides	Hyperkeratosis, Abnormal oral mucosa morphology	ORPHA:254478
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform e...	ORPHA:100976
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Vulvovaginal Gingival Syndrome	Parakeratosis, Oral ulcer, Gingivitis	ORPHA:83453
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,...	OMIM:242100
Sjögren-Larsson Syndrome	Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis	ORPHA:816
Proteus Syndrome	Hyperkeratosis, Open mouth	OMIM:176920
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Harlequin Ichthyosis	Eclabion, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Hypodontia	OMIM:224750
Catel-Manzke Syndrome	Glossoptosis, Oral synechia, Cleft palate	ORPHA:1388
Hartnup Disorder	Glossitis	OMIM:234500
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis	OMIM:618084
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Gingivitis, Ichthyosis	OMIM:614457
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop...	ORPHA:2309
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Lichen Planopilaris	Hyperkeratosis, Abnormal intestine morphology, Neoplasm of the oral cavity	ORPHA:525
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis, Abnormal stomach morphology	ORPHA:281090
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Monilethrix	Follicular hyperkeratosis, Abnormality of the dentition	ORPHA:573
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans	OMIM:618527
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	ORPHA:409
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Subungual hyperkeratosis, Cleft palate, Short philtrum, Orthokeratosis	OMIM:617337
Erythrokeratodermia Variabilis	Hyperkeratosis, Patchy palmoplantar hyperkeratosis	ORPHA:317
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Lamellar Ichthyosis	Hyperkeratosis, Ichthyosis, Everted lower lip vermilion, Abnormality of the dentition	ORPHA:313
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Abnormality of primary teeth, Agenesis of permanent teet...	OMIM:257980
Psoriasis 14, Pustular	Parakeratosis, Geographic tongue, Furrowed tongue	OMIM:614204
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis	ORPHA:89843
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Parakeratosis, Abnormality of the dentition	ORPHA:90368
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Long philtrum	OMIM:615225
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters	ORPHA:158681
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Hyperkeratosis	ORPHA:1883
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Cardiofaciocutaneous Syndrome 3	Wide mouth, Hyperkeratosis	OMIM:615279
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	High palate, Follicular hyperkeratosis	OMIM:617066
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma, Conical primary incisor	OMIM:602400
Auriculocondylar Syndrome 1	Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-...	OMIM:602483
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Chilblain Lupus	Hyperkeratosis	ORPHA:90280
Lelis Syndrome	Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, Acanthosis nigricans	ORPHA:140936
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Hypotrichosis 6	Follicular hyperkeratosis	OMIM:607903
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Costello Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro...	ORPHA:3071
Cataract-Intellectual Disability-Hypogonadism Syndrome	Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition	ORPHA:1387
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Furrowed tongue, Hyperkeratosis, Ichthyosis, Microdontia, Oral leukoplakia	OMIM:148210
Classic Mycosis Fungoides	Hyperkeratosis	ORPHA:2584
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Eclabion, Generalized hyperkeratosis, Generalized ichthyosis	ORPHA:2269
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypergranulosis, Acantholysis, Eosinophilic infiltration of the esophagus, Malabsorption, Palmopl...	OMIM:615508
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Hypoglossia With Situs Inversus	Microglossia, High palate, Hypodontia, Narrow mouth	OMIM:612776
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	High palate, Follicular hyperkeratosis	ORPHA:486815
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Auriculocondylar Syndrome	Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala...	ORPHA:137888
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Wide mouth, Hyperkeratosis, Short philtrum	ORPHA:163966
Chromomycosis	Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Abnormal oral cavity morphology	ORPHA:182
Ichthyosis Prematurity Syndrome	Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Donohue Syndrome	Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Hyperkeratosis, Acanthosis nigricans	OMIM:246200
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum	OMIM:613443
Darier-White Disease	Enlargement of parotid gland, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Hypotrichosis And Recurrent Skin Vesicles	Angular cheilitis, Follicular hyperkeratosis	OMIM:613102
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Oligodontia, Hypodontia, Ichthyosis, Orthokeratosis, Enamel hypoplasia	OMIM:607626
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Aden...	ORPHA:79501
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Ichthyosis	OMIM:612379
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth	OMIM:613604
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue...	OMIM:258860
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:620269
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal...	OMIM:174300
Sialidosis Type 1	Hyperkeratosis, Thick lower lip vermilion	ORPHA:812
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis, Cheilitis	ORPHA:163525
Hypoglossia-Hypodactylia	Microglossia, Aglossia, Narrow mouth	OMIM:103300
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Carious teeth, Hyperkeratosis, Palmoplantar keratoderma, Long philtrum	OMIM:604173
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia	ORPHA:3201
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Thin vermilion border	OMIM:609180
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Premature loss of permanent teeth, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Scler...	OMIM:610644
Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Abnormality of the dentition, Xerostomia, Tooth agenesis, Hyperkerato...	ORPHA:238468
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Narrow mouth, Hyperkeratosis, Everted lower lip vermilion, Congenita...	OMIM:608013
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Inflammation of the large intestine, Esophageal varix, Enamel hypoplasia	OMIM:614576
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Hyperkeratosis...	OMIM:601701
Dowling-Degos Disease	Hyperkeratosis, Hyperkeratotic papule	ORPHA:79145
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ...	ORPHA:2930
Chronic Mucocutaneous Candidiasis	Hyperkeratosis, Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis	ORPHA:36386
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:308800
Netherton Syndrome	Villous atrophy, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Intestinal atresia	OMIM:256500
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis	ORPHA:1005
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Abnormality of the dentition	ORPHA:1806
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Tongue fasciculations	OMIM:614678
Noonan Syndrome 8	Hyperkeratosis	OMIM:615355
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc...	OMIM:115150
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Trisomy 8Q	Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ...	ORPHA:1752
Neonatal Lupus Erythematosus	Hyperkeratosis, Parakeratosis	ORPHA:398124
Mandibuloacral Dysplasia	Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Acanthosis nigricans	ORPHA:2457
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Hype...	ORPHA:3474
Joubert Syndrome 18	Lobulated tongue, Cleft palate	OMIM:614815
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:601675
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teeth, Esophageal str...	ORPHA:2908
Prolidase Deficiency	Carious teeth, Hyperkeratosis, Palmoplantar keratoderma	ORPHA:742
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Tongue fasciculations	OMIM:601596
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Bone Marrow Failure Syndrome 3	Oral ulcer, Downturned corners of mouth, Hyperkeratosis, Hypodontia, Microdontia, Enamel hypoplas...	OMIM:617052
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Cleft palate	OMIM:618356
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia	ORPHA:79280
Ullrich Congenital Muscular Dystrophy 1	High palate, Follicular hyperkeratosis	OMIM:254090
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili...	ORPHA:1358
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations	OMIM:620285
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue	ORPHA:2759
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth	OMIM:615065
Cowden Syndrome 5	Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ...	OMIM:615108
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Stomatitis, Hyperkeratosis	OMIM:612852
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p...	OMIM:252100
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Downturned corners of mouth, Hyperkeratosis, Esophageal stenosis, Short philtrum	OMIM:615510
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Ichthyosis	OMIM:610768
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Thickened skin, Narrow philtrum, Palmoplantar hyperkeratosis, Hyperker...	OMIM:601812
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate	ORPHA:2001
Milroy Disease	Hyperkeratosis	ORPHA:79452
Cardiofaciocutaneous Syndrome	Submucous cleft hard palate, Hyperkeratosis, Palmoplantar keratoderma, High palate, Ichthyosis, L...	ORPHA:1340
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Colitis	OMIM:301220
Cowden Syndrome 6	Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ...	OMIM:615109
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u...	ORPHA:2752
Werner Syndrome	Hyperkeratosis, Neoplasm of the oral cavity	ORPHA:902
Cowden Syndrome 1	Colonic diverticula, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous p...	OMIM:158350
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Cleft upper lip, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokerat...	OMIM:308050
Autoinflammation With Arthritis And Dyskeratosis	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis	ORPHA:64745
Holzgreve Syndrome	Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Follicular hyperkeratosis, Furrowed tongue	OMIM:158310
Fucosidosis	Generalized hyperkeratosis, Abnormality of the dentition	ORPHA:349
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Xerostomia, Cleft palate, Orofacial cleft, Toot...	ORPHA:1896
Ramon Syndrome	Delayed eruption of teeth, Hyperkeratosis, Gingival fibromatosis, Narrow palate	OMIM:266270
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis	ORPHA:284426
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ...	OMIM:611209
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Cleft palate	ORPHA:440354
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Orofaciodigital Syndrome I	Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo...	OMIM:311200
Kid Syndrome	Lip fissure, Angular cheilitis, Abnormality of the dentition, Gingivitis, Congenital ichthyosifor...	ORPHA:477
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l...	OMIM:616449
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci...	ORPHA:464
Acute Radiation Syndrome	Hyperkeratosis	ORPHA:454831
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis	OMIM:175500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Thick vermilion border, Epidermal hyperkeratosis	OMIM:137940
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Hypoglossia-Hypodactyly Syndrome	Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ...	ORPHA:989
Incontinentia Pigmenti	Delayed eruption of teeth, Conical tooth, Hyperkeratosis, Oligodontia, Hypodontia	OMIM:308300
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Cleidocranial Dysplasia	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ...	ORPHA:1452
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Abnormal dental enamel morphology, Malabsorption	ORPHA:79430
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Adenocarcinoma of the colon	OMIM:620189
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth	ORPHA:1790
Noonan Syndrome 10	Hyperkeratosis, High palate	OMIM:616564
Orofaciodigital Syndrome Type 6	Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor...	ORPHA:2754
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Sup...	ORPHA:1507
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Acanthosis nigricans, Furrowe...	ORPHA:769
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Dental malocclusion, Localized hypoplasia of dental enamel, Epidermal thickening,...	ORPHA:73223
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,...	ORPHA:193
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum	OMIM:300534
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Kanzaki Disease	Hyperkeratosis, Telangiectasia of the oral mucosa, Thick lower lip vermilion, Lip telangiectasia	OMIM:609242
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ...	OMIM:277170
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve...	ORPHA:570
Tarp Syndrome	Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum	OMIM:311900
Noonan Syndrome 2	Hyperkeratosis, High palate	OMIM:605275
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl...	OMIM:129900
X-Linked Agammaglobulinemia	Glossoptosis, Malabsorption	ORPHA:47
Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Bifid uvula, Cleft palate	ORPHA:1427
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A...	OMIM:616894
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth,...	OMIM:604292
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperkeratosis, High palate, Ichthyosis	OMIM:607721
Mycetoma	Cobblestone-like hyperkeratosis	ORPHA:2583
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ...	ORPHA:958
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob...	OMIM:616300
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis	OMIM:277380
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm...	ORPHA:861
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Cleft palate	ORPHA:436003
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, Colorectal poly...	ORPHA:201
Reactive Arthritis	Hyperkeratosis, Inflammation of the large intestine, Recurrent aphthous stomatitis	ORPHA:29207
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, High palat...	ORPHA:453499
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi...	ORPHA:352665
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ...	ORPHA:464738
Xeroderma Pigmentosum	Hyperkeratosis, Thickened skin, Abnormality of the dentition	ORPHA:910
Leprechaunism	Thickened skin, Rectal prolapse, Megarectum, Hyperkeratosis, Thick vermilion border, Acanthosis n...	ORPHA:508
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Tongue fasciculations	OMIM:211530
Meige Disease	Cobblestone-like hyperkeratosis	ORPHA:90186
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at...	OMIM:613091
6Q Terminal Deletion Syndrome	Hyperkeratosis, High, narrow palate, Thick vermilion border, Broad philtrum	ORPHA:75857
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia...	ORPHA:97360
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Carey-Fineman-Ziter Syndrome 1	Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia	OMIM:254940
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal dental morphology, Hyperkeratosis, Everted lower lip vermilion, Ichthyosis, Open mouth	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal dental morphology, Hyperkeratosis, Everted lower lip vermilion, Ichthyosis, Open mouth	ORPHA:363958
Ramos-Arroyo Syndrome	Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum	ORPHA:1051
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis	ORPHA:2031
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ...	OMIM:117650
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per...	OMIM:180700
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ...	OMIM:268310
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum...	ORPHA:3107
Au-Kline Syndrome	Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Open mo...	OMIM:616580
Otopalatodigital Syndrome Type 2	Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia	ORPHA:90652
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ...	ORPHA:2108
Fabry Disease	Hyperkeratosis, Thick lower lip vermilion, Malabsorption	ORPHA:324
Tarp Syndrome	Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m...	ORPHA:2886
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Frontorhiny	Bifid tongue, Cleft palate	ORPHA:391474
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Med...	OMIM:269860
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Anteriorly placed anus, Glo...	OMIM:602535
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Follicular hyperkeratosis	OMIM:614557
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste...	ORPHA:818
Warburg-Cinotti Syndrome	High palate, Dental crowding, Gingival overgrowth, Follicular hyperkeratosis	OMIM:618175
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy	ORPHA:101085
Spondyloepiphyseal Dysplasia Congenita	Glossoptosis, Cleft palate	ORPHA:94068
Stuve-Wiedemann Syndrome 1	Carious teeth, Pursed lips, Thin vermilion border, Smooth tongue	OMIM:601559
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Dental crowding, Follicular hyperkeratosis	OMIM:225400
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations	ORPHA:99949
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L...	ORPHA:444077
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Aganglionic megacolon, Cleft palate, Hyperkera...	OMIM:308205
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Giant Cell Arteritis	Glossitis	ORPHA:397
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Catel-Manzke Syndrome	Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi...	OMIM:616145
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Cheilitis, Hyperkeratosis, Ichthyosis	ORPHA:2273
Atypical Werner Syndrome	Hyperkeratosis, Thin vermilion border, Neoplasm of the oral cavity	ORPHA:79474
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Smooth philtrum, Duodenal atresia	OMIM:616975
Kyphoscoliotic Ehlers-Danlos Syndrome	High palate, Follicular hyperkeratosis	ORPHA:536545
Restrictive Dermopathy	Natal tooth, Epidermal hyperkeratosis, Submucous cleft hard palate, Narrow mouth, Generalized hyp...	ORPHA:1662
Cerebrocostomandibular Syndrome	Glossoptosis, Short hard palate, Cleft palate	ORPHA:1393
Orofaciodigital Syndrome Type 14	Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle...	ORPHA:434179
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog...	ORPHA:828
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis, Short philtrum	OMIM:210710
Orofaciodigital Syndrome Xiv	Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef...	OMIM:615948
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pyloric stenosis, Parakeratosis, Cleft palate, Narrow mouth	ORPHA:83617
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ...	OMIM:249000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Glossitis, Smooth philtrum	ORPHA:79282
Distal Deletion 15Q	Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Bifid tongue	ORPHA:1596
Restrictive Dermopathy 1	Epidermal hyperkeratosis, Natal tooth, Submucous cleft hard palate, Narrow mouth	OMIM:275210
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis	ORPHA:653
Yunis-Varon Syndrome	Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st...	ORPHA:3472
Leprosy	Hyperkeratosis	ORPHA:548
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis	ORPHA:276280
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy	ORPHA:466768
Fraser Syndrome	Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an...	ORPHA:2052
Proteus Syndrome	Abnormal dental enamel morphology, Carious teeth, Thickened skin, Tooth agenesis, Generalized hyp...	ORPHA:744
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue	ORPHA:564
Glucagonoma	Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea	ORPHA:97280
Kawasaki Disease	Glossitis, Cheilitis	ORPHA:2331
Microsporidiosis	Glossitis	ORPHA:2552
Viss Syndrome	Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa...	OMIM:619472
Stüve-Wiedemann Syndrome	Smooth tongue, Abnormality of the dentition	ORPHA:3206
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal atresia	ORPHA:93271
Plague	Chapped lip, Inflammation of the large intestine, Glossitis, Enterocolitis	ORPHA:707
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho...	ORPHA:1359

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 Krt36

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 Krt36.

No publications found that use IMPC mice or data for Krt36.

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
Krt36^{tm95101(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Krt36^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Krt36^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	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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