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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 (429 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	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Palmoplantar Keratoderma, Punctate Type Ii	Spinous keratoses of palms and soles, Porokeratosis	OMIM:175860
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormality of the dentition, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	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, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
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 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,...	OMIM:615024
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Gingival overgrowth, Focal friction-related p...	ORPHA:2200
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Tylosis With Esophageal Cancer	Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ...	OMIM:148500
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Anonychia With Flexural Pigmentation	Carious teeth, Follicular hyperkeratosis, Hyperkeratosis	ORPHA:69125
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis	ORPHA:79503
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:613943
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosis, Plantar hyperkeratosi...	ORPHA:79399
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Cole Disease	Hyperkeratotic papule, Abnormality of the dentition, Orthokeratosis, Palmoplantar keratoderma, Hy...	OMIM:615522
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, H...	OMIM:300918
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis	ORPHA:199267
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:311895
Acrokeratosis Verruciformis	Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis	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	Palmoplantar keratoderma, Thin upper lip vermilion, Follicular hyperkeratosis, Enamel hypoplasia,...	OMIM:613576
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia	OMIM:167200
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis	OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Eclabion, Hyperkeratosis, Congenital nonbullous ichthyosiform er...	OMIM:615023
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Ch...	OMIM:619208
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Follicular hyperkeratos...	OMIM:615726
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Palmoplantar hyperkeratosis, Hyperkeratosis, Oral mucosal blisters	ORPHA:89838
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Lipoid Proteinosis	Abnormal oral mucosa morphology, Thickened skin, Microglossia, Thick lower lip vermilion, Abnorma...	ORPHA:530
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat...	OMIM:148700
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:620148
Ichthyosis, Congenital, Autosomal Recessive 3	Palmoplantar keratoderma, Ichthyosis, Eclabion, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:606545
Ichthyosis With Erythrokeratoderma	Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar hyperkerato...	OMIM:620507
Mednik Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis	ORPHA:171851
Autosomal Dominant Epidermolytic Ichthyosis	Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis	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	Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, ...	OMIM:612281
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Palmoplantar keratoderma, Tooth agenesis, Gingival recession, Ichthyosis, Parakeratosis, Hyperker...	OMIM:615821
Irida Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis	ORPHA:209981
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Ichthyosis, Annular Epidermolytic, 1	Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Congenital bullous i...	OMIM:607602
Keratoderma Hereditarium Mutilans	Cleft palate, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Oral leukoplakia	OMIM:615735
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Acquired Ichthyosis	Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis	ORPHA:454
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosi...	OMIM:602540
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Abnormal dental morphology	OMIM:618531
Bazex Syndrome	Palmoplantar keratoderma, Lip hyperpigmentation, Parakeratosis, Acanthosis nigricans, Hyperkeratosis	ORPHA:166113
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Hyperkeratosi...	OMIM:616029
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Ev...	OMIM:242300
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi...	ORPHA:3019
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Psoriasis 2	Parakeratosis, Hyperkeratosis	OMIM:602723
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosis...	ORPHA:79397
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis	OMIM:247100
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis	ORPHA:38
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:3406
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:79151
Rothmund-Thomson Syndrome, Type 1	Conical tooth, Hyperkeratosis	OMIM:618625
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Eclabion, Congenital nonb...	ORPHA:100976
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Abnormal oral cav...	ORPHA:2897
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar hyperkerato...	OMIM:616295
Flynn-Aird Syndrome	Carious teeth, Hyperkeratosis	OMIM:136300
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Acquired Hypertrichosis Lanuginosa	Thickened skin, Ichthyosis, Acanthosis nigricans, Macroglossia, Glossitis	ORPHA:2221
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Hyperkeratosis	ORPHA:254478
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man...	OMIM:614669
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma	ORPHA:2698
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Vulvovaginal Gingival Syndrome	Gingivitis, Parakeratosis, Oral ulcer	ORPHA:83453
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth, Hyperkeratosis	ORPHA:1839
Ichthyosis, Congenital, Autosomal Recessive 2	Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Everted lower l...	OMIM:242100
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis	ORPHA:816
Familial Benign Chronic Pemphigus	Acantholysis, Hyperkeratosis	ORPHA:2841
Proteus Syndrome	Hyperkeratosis, Open mouth	OMIM:176920
Harlequin Ichthyosis	Ichthyosis, Eclabion, Hyperkeratosis, Congenital ichthyosiform erythroderma	ORPHA:457
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Catel-Manzke Syndrome	Oral synechia, Glossoptosis, Cleft palate	ORPHA:1388
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Peeling Skin Syndrome 6	Parakeratosis, Orthokeratosis	OMIM:618084
Schopf-Schulz-Passarge Syndrome	Hypodontia, Palmoplantar keratoderma, Hyperkeratosis	OMIM:224750
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Gingivitis, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis	OMIM:614457
Pachyonychia Congenita	Natal tooth, Palmoplantar keratoderma, Oral leukoplakia, Linear arrays of macular hyperkeratoses ...	ORPHA:2309
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Hyperkeratosis, Ichthyosis	ORPHA:281090
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Eclabion, Generalized ichthyosis, Generalized hyperkeratosis	ORPHA:2269
Hartnup Disorder	Glossitis	OMIM:234500
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Lichen Planopilaris	Abnormal intestine morphology, Hyperkeratosis, Neoplasm of the oral cavity	ORPHA:525
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Monilethrix	Abnormality of the dentition, Follicular hyperkeratosis	ORPHA:573
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis	OMIM:618527
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:317
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Hyperkeratosis	ORPHA:90368
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Orthokeratosis, Short philtrum, Cleft palate	OMIM:617337
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	ORPHA:409
Hidrotic Ectodermal Dysplasia	Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,...	ORPHA:189
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Psoriasis 14, Pustular	Parakeratosis, Furrowed tongue, Geographic tongue	OMIM:614204
Lamellar Ichthyosis	Abnormality of the dentition, Hyperkeratosis, Ichthyosis, Everted lower lip vermilion	ORPHA:313
Odontoonychodermal Dysplasia	Orthokeratosis, Smooth tongue, Widely spaced primary teeth, Hypergranulosis, Agenesis of permanen...	OMIM:257980
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis	ORPHA:89843
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Long philtrum, Follicular hyperkeratosis	OMIM:615225
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Hyperkeratosis	ORPHA:1883
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	High palate, Follicular hyperkeratosis	OMIM:617066
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Cardiofaciocutaneous Syndrome 3	Wide mouth, Hyperkeratosis	OMIM:615279
Lelis Syndrome	Carious teeth, Furrowed tongue, Hypodontia, Acanthosis nigricans, Palmoplantar hyperkeratosis	ORPHA:140936
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Chilblain Lupus	Hyperkeratosis	ORPHA:90280
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S...	ORPHA:3241
Hypotrichosis 6	Follicular hyperkeratosis	OMIM:607903
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy	ORPHA:54028
Costello Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Acant...	ORPHA:3071
Hypoglossia With Situs Inversus	Hypodontia, High palate, Microglossia, Narrow mouth	OMIM:612776
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum	ORPHA:1387
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Oral leukoplakia, Furrowed tongue, Ichthyosis, Microdontia, Hyperkeratosis	OMIM:148210
Singleton-Merten Syndrome 2	Abnormality of the dentition, Hyperkeratosis	OMIM:616298
Hypotrichosis And Recurrent Skin Vesicles	Abnormality of the dentition, Angular cheilitis, Follicular hyperkeratosis	OMIM:613102
Classic Mycosis Fungoides	Hyperkeratosis	ORPHA:2584
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Lobulated tongue	OMIM:617127
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Supernumerary tooth, E...	OMIM:190351
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Ichthyosis Prematurity Syndrome	Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N...	OMIM:620107
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	High palate, Follicular hyperkeratosis	ORPHA:486815
Auriculocondylar Syndrome 3	Bifid uvula, Glossoptosis	OMIM:615706
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short philtrum, Wide mouth, Hyperkeratosis	ORPHA:163966
Chromomycosis	Hyperkeratotic papule, Abnormal oral cavity morphology, Hyperkeratosis, Hyperparakeratosis	ORPHA:182
Donohue Syndrome	Thick lower lip vermilion, Gingival overgrowth, Acanthosis nigricans, Hyperkeratosis, Wide mouth	OMIM:246200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Eosinophilic infiltration ...	OMIM:615508
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Short philtrum, Downturned corners of mouth, Lobulated tongue	OMIM:613443
Darier-White Disease	Subungual hyperkeratotic fragments, Acantholysis, Enlargement of parotid gland, Acrokeratosis	OMIM:124200
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Ichthyosis, Oligodontia, Parakeratosis, Hypodontia, Enamel hypoplasia	OMIM:607626
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Variegate Porphyria, Childhood-Onset	Epidermal hyperkeratosis	OMIM:620483
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Ichthyosis	OMIM:612379
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-Robin sequence	OMIM:613604
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Stomach cancer,...	ORPHA:79501
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Hyperkeratosis	OMIM:301108
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:620269
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate...	OMIM:258860
Sialidosis Type 1	Hyperkeratosis, Thick lower lip vermilion	ORPHA:812
Orofaciodigital Syndrome V	Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip...	OMIM:174300
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Poikiloderma With Neutropenia	Carious teeth, Palmoplantar keratoderma, Long philtrum, Plantar hyperkeratosis, Hyperkeratosis	OMIM:604173
Subacute Cutaneous Lupus Erythematosus	Cheilitis, Hyperkeratosis	ORPHA:163525
Hypoglossia-Hypodactylia	Aglossia, Microglossia, Narrow mouth	OMIM:103300
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Xerostomia, Tooth agenesis, Abnormal dental morphology, Thick vermi...	ORPHA:238468
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate	ORPHA:3201
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Hyperkeratosis	OMIM:609180
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Premature loss of permanent teeth, Scler...	OMIM:610644
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Open mouth, Ichthyosis, Narrow mouth, Everted lower lip vermilion, H...	OMIM:608013
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Cheilitis, Hyperkeratosis, Abnormal lip morphology	ORPHA:1334
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Hyperkeratosis, Esophageal varix, Enamel hypoplasia	OMIM:614576
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, Orofacial cleft, Hyperkeratosis,...	OMIM:601701
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Dowling-Degos Disease	Hyperkeratotic papule, Hyperkeratosis	ORPHA:79145
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis	ORPHA:36386
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis	ORPHA:158681
Netherton Syndrome	Parakeratosis, Villous atrophy, Intestinal atresia, Congenital nonbullous ichthyosiform erythroderma	OMIM:256500
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl...	OMIM:616367
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Anoperineal fistula, Palmoplantar keratoderma, Chapp...	ORPHA:158668
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Follicular hyperkeratosis, Palmoplantar keratoderma	OMIM:308800
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis	ORPHA:1005
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Hyperkeratosis	ORPHA:1806
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Acanthol...	OMIM:601214
Tetraamelia Syndrome 2	Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip	OMIM:618021
Noonan Syndrome 8	Hyperkeratosis	OMIM:615355
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Dental malocclusion, Open bite, Open mouth, Ichthyosis, Submucous c...	OMIM:115150
Neonatal Lupus Erythematosus	Parakeratosis, Hyperkeratosis	ORPHA:398124
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Tongue atrophy	OMIM:614678
Trisomy 8Q	Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi...	ORPHA:1752
Mandibuloacral Dysplasia	Dental crowding, Abnormal tongue morphology, Acanthosis nigricans, High palate, Hypoplasia of teeth	ORPHA:2457
Cronkhite-Canada Syndrome	Furrowed tongue, Stomach cancer, Intestinal polyposis, Hypogeusia, Hamartomatous polyposis, Colon...	ORPHA:2930
Chime Syndrome	Abnormality of the dentition, Abnormal dental morphology, Ichthyosis, Microdontia, Hypodontia, Th...	ORPHA:3474
Joubert Syndrome 18	Cleft palate, Lobulated tongue	OMIM:614815
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Palmoplantar keratoderma, Abno...	ORPHA:2908
Prolidase Deficiency	Palmoplantar keratoderma, Carious teeth, Hyperkeratosis	ORPHA:742
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lip telangiectasia, Hyperkeratosis, Telangiectasia of the oral mucosa, Thick vermilion border	ORPHA:79280
Bone Marrow Failure Syndrome 3	Downturned corners of mouth, Oral ulcer, Microdontia, Hypodontia, Amelogenesis imperfecta, Enamel...	OMIM:617052
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy	OMIM:601596
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Cleft palate	OMIM:618356
Trichothiodystrophy 1, Photosensitive	Triangular mouth, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Intestinal ob...	OMIM:601675
Ullrich Congenital Muscular Dystrophy 1A	High palate, Follicular hyperkeratosis	OMIM:254090
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis, Stomatitis	OMIM:612852
Arthrogryposis, Distal, Type 5D	Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate	OMIM:615065
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Narrow mouth, Palmoplantar hyperkeratosis, High palate, Ham...	OMIM:615108
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morphology	ORPHA:2759
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bifid tongue, Bilateral cleft palate	ORPHA:2001
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tongue atrophy	OMIM:620285
Premature Aging Syndrome, Penttinen Type	Thickened skin, Delayed eruption of teeth, Narrow philtrum, Palmoplantar hyperkeratosis, Thin ver...	OMIM:601812
Orofaciodigital Syndrome Ii	Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ...	OMIM:252100
Carey-Fineman-Ziter Syndrome	Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate, Glossoptosis...	ORPHA:1358
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Ichthyosis	OMIM:610768
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Short philtrum, Hyperkeratosis, Downturned corners of mouth, Esophageal stenosis	OMIM:615510
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to...	ORPHA:2752
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Long philtrum, Ichthyosis, Submucous cleft hard palate, High palate, Hy...	ORPHA:1340
Milroy Disease	Hyperkeratosis	ORPHA:79452
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Colitis, Hyperkeratosis	OMIM:301220
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Narrow mouth, Palmoplantar hyperkeratosis, High palate, Ham...	OMIM:615109
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Follicular hyperkeratosis, Erythematous oral mucosa	OMIM:158310
Werner Syndrome	Hyperkeratosis, Neoplasm of the oral cavity	ORPHA:902
Fucosidosis	Abnormality of the dentition, Generalized hyperkeratosis	ORPHA:349
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Orthokeratosis, Congenital ichthyosiform erythroderma, Cleft upper lip, Parakeratosis, Hyperkerat...	OMIM:308050
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis	ORPHA:64745
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Narrow mouth, Acrokeratosis, Palmoplantar hyperkeratosis, H...	OMIM:158350
Autoinflammation With Arthritis And Dyskeratosis	Palmoplantar hyperkeratosis, Follicular hyperkeratosis	OMIM:617388
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Cleft palate	ORPHA:440354
Holzgreve Syndrome	Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Ramon Syndrome	Narrow palate, Gingival fibromatosis, Hyperkeratosis, Delayed eruption of teeth	OMIM:266270
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis	ORPHA:284426
Eec Syndrome	Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel morphology, Microdontia, Taurod...	ORPHA:1896
Congenital Disorder Of Glycosylation, Type Iig	Long philtrum, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, High palate, Glossoptosis...	OMIM:611209
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Orofaciodigital Syndrome I	Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ...	OMIM:311200
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morphology, Hypodon...	ORPHA:464
Acute Radiation Syndrome	Hyperkeratosis	ORPHA:454831
Kid Syndrome	Abnormality of the dentition, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Li...	ORPHA:477
Basel-Vanagaite-Smirin-Yosef Syndrome	Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermilion, High palate, Short phil...	OMIM:616449
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Thick vermilion border, Epidermal hyperkeratosis	OMIM:137940
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Bethlem Muscular Dystrophy	Hyperkeratosis	ORPHA:610
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Narrow mouth, Jejunal atresia, Hypodontia, High palate, Anal at...	ORPHA:989
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Hyperkeratosis	OMIM:308300
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Adenocarcinoma of the colon, Hyperkeratosis	OMIM:620189
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open...	ORPHA:1452
Hartnup Disease	Gingivitis, Glossitis	ORPHA:2116
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate	ORPHA:1790
Kanzaki Disease	Lip telangiectasia, Hyperkeratosis, Telangiectasia of the oral mucosa, Thick lower lip vermilion	OMIM:609242
Noonan Syndrome 10	High palate, Hyperkeratosis	OMIM:616564
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum, High palate	OMIM:300534
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hamartomatous polyposis, Glossitis, Protein-losing enteropathy, Xerostomia	OMIM:175500
Otospondylomegaepiphyseal Dysplasia	Bifid uvula, Glossoptosis, Cleft palate	ORPHA:1427
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes...	ORPHA:193
Autosomal Recessive Robinow Syndrome	Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi...	ORPHA:1507
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Thickened skin, Hyperkeratosis	ORPHA:79430
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Dental malocclusion, Long philtrum, Orthokeratotic hyperkeratosis, Conical inciso...	ORPHA:73223
Acrodermatitis Enteropathica	Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis	ORPHA:37
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru...	ORPHA:769
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Hamartoma of tongue, Abnormal oral frenulum morphology, Hi...	ORPHA:2754
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Op...	ORPHA:2750
Orofaciodigital Syndrome Vi	Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p...	OMIM:277170
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Oligodontia, Microdontia, A...	OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Anteriorly p...	OMIM:604292
Tarp Syndrome	Meckel diverticulum, High palate, Glossoptosis, Tongue nodules, Cleft palate	OMIM:311900
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu...	OMIM:616894
Mycetoma	Cobblestone-like hyperkeratosis	ORPHA:2583
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	High palate, Hyperkeratosis, Ichthyosis	OMIM:607721
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Microdontia, Everted lower lip verm...	ORPHA:570
Chand Syndrome	Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla...	ORPHA:1401
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Orofacial cleft, Tracheoesophageal fistula, High palate, Short ...	ORPHA:958
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Incomplete cleft of the upper lip, Bifid tongue, Ana...	OMIM:616300
Treacher-Collins Syndrome	Abnormality of the dentition, Cleft upper lip, Tooth agenesis, Open bite, Abnormal dental enamel ...	ORPHA:861
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, Stomatitis	OMIM:277380
X-Linked Agammaglobulinemia	Glossoptosis	ORPHA:47
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Cleft palate	ORPHA:436003
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Downturned corners of mouth, Furrowed tongue, Open mouth, Oligodontia, Macroglossia,...	ORPHA:453499
Reactive Arthritis	Recurrent aphthous stomatitis, Inflammation of the large intestine, Hyperkeratosis	ORPHA:29207
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis, Furrowed tongue, Colorectal polyposis, Macr...	ORPHA:201
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Furrowed tongue, Tented upper lip vermilion, Exaggerated cupid's bow, Everte...	ORPHA:464738
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:352665
Noonan Syndrome 2	High palate, Wide mouth, Hyperkeratosis, Long philtrum	OMIM:605275
Robinow Syndrome, Autosomal Recessive 1	Narrow palate, Microglossia, Dental crowding, Downturned corners of mouth, Long philtrum, Tooth a...	OMIM:268310
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Stomatitis, Cleft palate	ORPHA:79284
Xeroderma Pigmentosum	Thickened skin, Hyperkeratosis, Abnormality of the dentition	ORPHA:910
6Q Terminal Deletion Syndrome	High, narrow palate, Broad philtrum, Hyperkeratosis, Thick vermilion border	ORPHA:75857
Leprechaunism	Megarectum, Thickened skin, Acanthosis nigricans, Thick vermilion border, Hyperkeratosis, Rectal ...	ORPHA:508
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Anal atresia, Cleft p...	OMIM:613091
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Meige Disease	Cobblestone-like hyperkeratosis	ORPHA:90186
Robinow Syndrome	Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc...	ORPHA:97360
Carey-Fineman-Ziter Syndrome 1	Microglossia, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:254940
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Tongue atrophy	OMIM:211530
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal dental morphology, Open mouth, Ichthyosis, Everted lower lip vermilion, Hyperkeratosis	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal dental morphology, Open mouth, Ichthyosis, Everted lower lip vermilion, Hyperkeratosis	ORPHA:363958
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Aganglionic megacolon	ORPHA:1051
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis	ORPHA:2031
Cerebrocostomandibular Syndrome	Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate...	OMIM:117650
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil...	OMIM:180700
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia	ORPHA:803
Autosomal Dominant Robinow Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Open bite, Gingival overgrowth, ...	ORPHA:3107
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Narrow mouth, Supernumerary tooth...	ORPHA:2108
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Open mouth, Oligodontia, Bifid ton...	OMIM:616580
Otopalatodigital Syndrome Type 2	Narrow mouth, Oligodontia, Anodontia, Glossoptosis, Cleft palate, Pierre-Robin sequence	ORPHA:90652
Tarp Syndrome	Alveolar ridge overgrowth, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft pala...	ORPHA:2886
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Fabry Disease	Hyperkeratosis, Thick lower lip vermilion	ORPHA:324
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis	ORPHA:35858
Frontorhiny	Bifid tongue, Cleft palate	ORPHA:391474
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Median cleft upper...	OMIM:269860
Marshall-Smith Syndrome	Eclabion, Anteriorly placed anus, Gingival overgrowth, Irregular dentition, Microdontia, Short ph...	OMIM:602535
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Warburg-Cinotti Syndrome	Dental crowding, High palate, Gingival overgrowth, Follicular hyperkeratosis	OMIM:618175
Generalized Pustular Psoriasis	Cheilitis, Geographic tongue	ORPHA:247353
Smith-Lemli-Opitz Syndrome	Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m...	ORPHA:818
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Follicular hyperkeratosis	OMIM:614557
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy	ORPHA:101085
Spondyloepiphyseal Dysplasia Congenita	Glossoptosis, Cleft palate	ORPHA:94068
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Stuve-Wiedemann Syndrome 1	Thin vermilion border, Carious teeth, Smooth tongue, Pursed lips	OMIM:601559
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Acanthosis nigricans, Macro...	ORPHA:444077
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Dental crowding, Follicular hyperkeratosis	OMIM:225400
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Giant Cell Arteritis	Glossitis	ORPHA:397
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy	ORPHA:99949
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal dental enamel morphology, Ichthyosis, Aganglionic megacolon, Cheilitis, Hyperkeratosis	ORPHA:2273
Catel-Manzke Syndrome	Bifid uvula, Cleft upper lip, Narrow mouth, High palate, Glossoptosis, Cleft palate, Pierre-Robin...	OMIM:616145
Atypical Werner Syndrome	Thin vermilion border, Hyperkeratosis, Neoplasm of the oral cavity	ORPHA:79474
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Cleft lip, Furrowed tongue, Smooth philtrum, High palate, Duodenal atresia	OMIM:616975
Kyphoscoliotic Ehlers-Danlos Syndrome	High palate, Follicular hyperkeratosis	ORPHA:536545
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Aganglionic megacolon, Follicular hyperkeratos...	OMIM:308205
Restrictive Dermopathy	Microcolon, Natal tooth, Generalized hyperkeratosis, Narrow mouth, Submucous cleft hard palate, E...	ORPHA:1662
Cerebrocostomandibular Syndrome	Short hard palate, Glossoptosis, Cleft palate	ORPHA:1393
Orofaciodigital Syndrome Type 14	Hamartoma of tongue, Accessory oral frenulum, Aplasia of the epiglottis, Bifid tongue, Supernumer...	ORPHA:434179
Stickler Syndrome	Bifid uvula, Long philtrum, Cleft upper lip, Open bite, Abnormal dental enamel morphology, Tooth ...	ORPHA:828
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short philtrum, Hyperkeratosis	OMIM:210710
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Aplasia of the epiglottis, B...	OMIM:615948
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Narrow mouth, Cleft palate, Pyloric stenosis	ORPHA:83617
Meckel Syndrome, Type 1	Natal tooth, Cleft upper lip, Intestinal malrotation, Thin upper lip vermilion, Smooth philtrum, ...	OMIM:249000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Glossitis, Stomatitis	ORPHA:79282
Distal Deletion 15Q	Abnormality of the dentition, Thin upper lip vermilion, Bifid tongue, Short philtrum, Cleft palate	ORPHA:1596
Restrictive Dermopathy 1	Natal tooth, Narrow mouth, Submucous cleft hard palate, Epidermal hyperkeratosis	OMIM:275210
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology	ORPHA:653
Yunis-Varon Syndrome	High, narrow palate, Gingival recession, Broad secondary alveolar ridge, Premature loss of primar...	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
Kawasaki Disease	Strawberry tongue, Lip fissure, Glossitis, Cheilitis	ORPHA:2331
Proteus Syndrome	Thickened skin, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Generalized hyp...	ORPHA:744
Meckel Syndrome	Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:564
Glucagonoma	Steatorrhea, Glossitis, Stomatitis, Intestinal obstruction	ORPHA:97280
Fraser Syndrome	Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Orofacial cleft, Anal atres...	ORPHA:2052
Viss Syndrome	High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Intestinal malrotation, Chronic ga...	OMIM:619472
Microsporidiosis	Glossitis	ORPHA:2552
Stüve-Wiedemann Syndrome	Abnormality of the dentition, Smooth tongue	ORPHA:3206
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, Anal atresia	ORPHA:93271
Plague	Inflammation of the large intestine, Chapped lip, Ileitis, Enterocolitis, Glossitis	ORPHA:707
Carney Complex	Abnormal hard palate morphology, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the sto...	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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