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Gene: Krt13 MGI:101925

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
keratin 13
Synonyms:
K13,  Krt-1.13,  Krt1-13

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 Krt13 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Krt13 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
White Sponge Nevus 2
OMIM:615785

The table below shows human diseases predicted to be associated to Krt13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Burning Mouth Syndrome
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Tylosis With Esophageal Cancer
Esophageal carcinoma, Oral leukoplakia OMIM:148500
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
White Sponge Nevus 1
Oral leukoplakia OMIM:193900
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy, Dysphagia OMIM:613435
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Barrett Esophagus
Barrett esophagus, Esophageal carcinoma, Gastroesophageal reflux, Esophageal ulceration OMIM:614266
Dyskeratosis, Hereditary Benign Intraepithelial
Oral leukoplakia OMIM:127600
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Plummer-Vinson Syndrome
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Dysphagia, Glossitis, Cheilitis, Tong... ORPHA:54028
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Oral leukoplakia OMIM:615735
Macroglossia
Macroglossia OMIM:153630
Gastroesophageal Reflux
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm OMIM:109350
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Hartnup Disorder
Glossitis OMIM:234500
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... OMIM:614669
Dyskeratosis Congenita, Autosomal Dominant 6
Abnormality of the dentition, Oral leukoplakia, Esophageal stenosis OMIM:616553
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Catel-Manzke Syndrome
Oral synechia, Glossoptosis, Cleft palate ORPHA:1388
Dyskeratosis Congenita, Autosomal Recessive 3
Oral leukoplakia, Squamous cell carcinoma of the tongue OMIM:613988
Pachyonychia Congenita 1
Oral leukoplakia OMIM:167200
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus, Esophagitis, Abnor... ORPHA:411696
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... ORPHA:3241
Hypoglossia With Situs Inversus
Hypodontia, High palate, Microglossia, Narrow mouth OMIM:612776
Lipoid Proteinosis
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... ORPHA:530
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia OMIM:158900
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... OMIM:602483
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Long philtrum, Narrow mouth, High palate OMIM:277720
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth, Anorectal anomaly ORPHA:1839
Hypoglossia-Hypodactylia
Aglossia, Microglossia, Narrow mouth OMIM:103300
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Orofaciodigital Syndrome Iii
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Pachyonychia Congenita 3
Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip OMIM:615726
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous esophageal perfor... OMIM:226600
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum ORPHA:1387
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Dysphagia, Esophageal stricture OMIM:616029
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft palate ORPHA:2001
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Short philtrum, Downturned corners of mouth, Lobulated tongue OMIM:613443
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Gastroesophageal reflux, Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-... OMIM:613604
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Hypogeusia, Ha... ORPHA:2930
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... OMIM:620107
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate ORPHA:3201
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
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip OMIM:618021
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Oral leukoplakia, Premature loss of teeth OMIM:616353
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... OMIM:175500
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip... OMIM:174300
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl... OMIM:616367
Joubert Syndrome 18
Cleft palate, Lobulated tongue OMIM:614815
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Gastroesophageal reflux, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow... ORPHA:89842
Pachyonychia Congenita 2
Angular cheilitis, Natal tooth, Oral leukoplakia OMIM:167210
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Gastroesophageal reflux, Exaggerated median tongue furrow ORPHA:313892
Dyskeratosis Congenita, Autosomal Recessive 2
Oral leukoplakia OMIM:613987
9Q21.13 Microdeletion Syndrome
Gastrointestinal dysmotility, Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Trisomy 8Q
Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi... ORPHA:1752
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Oral leukoplakia OMIM:619767
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Kindler Syndrome
Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis, Dysphagia, Esophageal ... OMIM:173650
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Wide mouth, Protruding tongue OMIM:614325
Seckel Syndrome 2
Microglossia, Microdontia OMIM:606744
Non-Syndromic Posterior Hypospadias
Anal atresia, Esophageal atresia, Cleft palate ORPHA:95706
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue OMIM:614204
Agnathia-Otocephaly Complex
Aglossia, Microglossia, Narrow mouth, Cleft palate OMIM:202650
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy, Dysphagia OMIM:614153
Lelis Syndrome
Hypodontia, Carious teeth, Furrowed tongue ORPHA:140936
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morphology ORPHA:2759
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Oral leukoplakia, Esophageal stricture, Microdontia OMIM:224230
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate OMIM:615065
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma OMIM:619463
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Open bite, Ankylog... ORPHA:2907
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Gastrointestinal inflammation, Esophageal stricture, Oral mucosal blisters ORPHA:79409
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, Narrow mouth, Jejunal atresia, Hypodontia, High palate, Anal at... ORPHA:989
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to... ORPHA:2752
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Noonan Syndrome 7
Abnormal esophagus morphology, Dysphagia, Impaired oropharyngeal swallow response, Thick vermilio... OMIM:613706
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Hypodontia, Enamel hypoplasia OMIM:253250
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Wolman Disease
Steatorrhea, Esophageal varix ORPHA:75233
Pallister-Hall-Like Syndrome
Median cleft upper lip, Microglossia, Cleft palate OMIM:241800
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology ORPHA:252164
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy, Dysphagia ORPHA:276198
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia, Enamel hypoplasia, Oral mucosal blisters OMIM:226730
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate, Glossoptosis... ORPHA:1358
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Cheilitis, Oral leukoplakia OMIM:616295
Bone Marrow Failure Syndrome 5
Oral leukoplakia OMIM:618165
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Dysphagia, Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98795
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... OMIM:618106
Orofaciodigital Syndrome Ii
Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ... OMIM:252100
Hereditary Folate Malabsorption
Glossitis, Cheilitis, Gastroesophageal reflux ORPHA:90045
Pachyonychia Congenita
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth ORPHA:2309
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia, Microdontia OMIM:148210
Hartnup Disease
Gingivitis, Glossitis ORPHA:2116
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Esophageal neoplasm, Abnorma... ORPHA:1018
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Oral leukoplakia, Esophageal stricture OMIM:613989
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Persistence of primary teeth, Rectal prolapse, Esop... OMIM:147060
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:615108
Distal Limb Deficiencies-Micrognathia Syndrome
Microglossia, Narrow mouth, Microdontia, High palate, Cleft palate ORPHA:1307
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Bilateral cleft palate, Thin upper lip vermilion, Bilateral cleft lip, Enamel hypo... OMIM:618874
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate OMIM:612938
Budd-Chiari Syndrome
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Esophageal varix, Intestinal obstruction ORPHA:131
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Rhombencephalosynapsis
Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Anal atresia ORPHA:59315
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:615109
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Anteriorly placed anus OMIM:615272
Basel-Vanagaite-Smirin-Yosef Syndrome
Gastroesophageal reflux, Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermilion... OMIM:616449
Angelman Syndrome Due To A Point Mutation
Dysphagia, Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:411511
Mandibuloacral Dysplasia
Dental crowding, High palate, Hypoplasia of teeth, Abnormal tongue morphology ORPHA:2457
Dyskeratosis Congenita, Digenic
Abnormality of the dentition, Gastroesophageal reflux, Dysphagia, Oral leukoplakia OMIM:620040
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate ORPHA:1790
Chand Syndrome
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla... ORPHA:1401
Kleefstra Syndrome 1
Gastroesophageal reflux, Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lo... OMIM:610253
Acrodermatitis Enteropathica
Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis ORPHA:37
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Icf Syndrome
Macroglossia, Protruding tongue ORPHA:2268
Immunodeficiency 12
Recurrent aphthous stomatitis, Cheilitis, Esophageal stricture OMIM:615468
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Tented upper lip vermilion, Agenesis of central incisor, Exa... ORPHA:364577
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Orofacial cleft, Tracheoesophageal fistula, High palate, Short ... ORPHA:958
Glycogen Storage Disease Iv
Esophageal varix OMIM:232500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue OMIM:242860
Congenital Disorder Of Glycosylation, Type Iig
Long philtrum, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, High palate, Glossoptosis... OMIM:611209
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response ORPHA:53351
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, Stomatitis OMIM:277380
Orofaciodigital Syndrome I
Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ... OMIM:311200
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Developmental And Epileptic Encephalopathy 80
Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, High palate, Wide ... OMIM:618580
Myopathy, Myofibrillar, 7
Tongue atrophy, Dysphagia OMIM:617114
Amyotrophic Lateral Sclerosis
Tongue atrophy, Xerostomia, Dysphagia ORPHA:803
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Microdontia, Everted lower lip verm... ORPHA:570
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Tongue nodules, Cleft palate OMIM:311900
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
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
Marshall-Smith Syndrome
Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Protruding tongue OMIM:618797
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Enamel hypoplasia, Esophageal varix OMIM:614576
Feingold Syndrome
Orofacial cleft, Esophageal atresia, Duodenal atresia ORPHA:1305
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open... ORPHA:1452
Ritscher-Schinzel Syndrome 2
Short philtrum, High palate, Intestinal malrotation, Protruding tongue OMIM:300963
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo... ORPHA:158668
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Cleft palate ORPHA:79284
Congenital Disorder Of Glycosylation, Type Iia
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted... OMIM:212066
Dyskeratosis Congenita
Abnormality of the dentition, Carious teeth, Periodontitis, Oral leukoplakia, Taurodontia, Hypodo... ORPHA:1775
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Aganglionic megacolon ORPHA:1051
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum, High palate OMIM:300534
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Downturned corners of mouth, Achalasia, Short philtrum, Dysphagia, Esophageal stenosis OMIM:615510
Angelman Syndrome
Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc... OMIM:608670
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate OMIM:619227
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis OMIM:158350
Hoyeraal-Hreidarsson Syndrome
Oral leukoplakia ORPHA:3322
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Gastroesophageal reflux, Downturned corners of mouth, Furrowed tongue, Open mouth, O... ORPHA:453499
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Hamartoma of tongue, Abnormal oral frenulum morphology, Hi... ORPHA:2754
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Gastroesophageal reflux, Downturned co... ORPHA:870
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu... OMIM:616894
Dyskeratosis Congenita, Autosomal Dominant 3
Gastrointestinal hemorrhage, Oral leukoplakia, Esophageal stricture OMIM:613990
X-Linked Agammaglobulinemia
Glossoptosis ORPHA:47
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
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
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... ORPHA:193
Treacher-Collins Syndrome
Abnormality of the dentition, Cleft upper lip, Tooth agenesis, Open bite, Abnormal dental enamel ... ORPHA:861
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy, Dysphagia OMIM:211530
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p... OMIM:277170
Juvenile Sialidosis Type 2
Gingival overgrowth, Dysphagia, Protruding tongue ORPHA:93399
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Esophageal atresia, Cleft palate ORPHA:3157
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
Autosomal Recessive Robinow Syndrome
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi... ORPHA:1507
Coach Syndrome 1
Wide mouth, Esophageal varix OMIM:216360
Gm1-Gangliosidosis, Type Ii
Dysphagia, Gingival overgrowth, Narrow mouth, Protruding tongue OMIM:230600
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
Cirrhosis, Familial
Esophageal varix OMIM:215600
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Gastroesophageal reflux, Long philtrum, Anteriorly place... OMIM:117650
Orofaciodigital Syndrome Type 1
Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Op... ORPHA:2750
Carey-Fineman-Ziter Syndrome 1
Microglossia, Gastroesophageal reflux, High palate, Glossoptosis, Dysphagia, Cleft palate, Pierre... OMIM:254940
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Thin uppe... OMIM:616078
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:314390
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98794
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, High palate OMIM:617804
Mandibulofacial Dysostosis, Guion-Almeida Type
Deep philtrum, Esophageal atresia, Cleft palate OMIM:610536
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Carious teeth, Periodontitis, Abnormal dental enamel morphol... ORPHA:2908
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Dyskeratosis Congenita, Autosomal Dominant 1
Carious teeth, Oral leukoplakia, Premature loss of teeth OMIM:127550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia ORPHA:77298
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix ORPHA:367
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
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Esophageal atresia OMIM:619859
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Glossitis ORPHA:35858
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Furrowed tongue, Tented upper lip vermilion, Exaggerated cupid's bow, Everte... ORPHA:464738
Apert Syndrome
Bifid uvula, Delayed eruption of teeth, Ectopic anus, Esophageal atresia, Narrow palate, Cleft pa... ORPHA:87
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Mucoepithelial Dysplasia, Hereditary
Furrowed tongue, Melena, Erythematous oral mucosa OMIM:158310
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Protruding tongue, Everted lower lip vermilion, Downturned corners of mouth ORPHA:96147
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Diastema, Thick lower lip vermilion, Protruding tongue, Thick vermilion ... OMIM:301040
Generalized Pustular Psoriasis
Cheilitis, Geographic tongue ORPHA:247353
Cholesteryl Ester Storage Disease
Steatorrhea, Esophageal varix OMIM:278000
Agel Amyloidosis
Tongue atrophy, Xerostomia ORPHA:85448
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Tarp Syndrome
Alveolar ridge overgrowth, Abnormal duodenum morphology, Glossoptosis, Tongue nodules, Cleft pala... ORPHA:2886
Kinsship Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Thick lower lip vermilion, Widely spaced te... OMIM:619297
Fanconi Anemia, Complementation Group B
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia OMIM:300514
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru... ORPHA:769
Raine Syndrome
Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microdontia, Enamel hypoplasia... OMIM:259775
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Gastrointestinal telangiectasia, Intestinal bleeding, Oral leukoplakia OMIM:612199
Robinow Syndrome
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc... ORPHA:97360
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Anal atresia, Esophageal diverticulum, Cleft palate OMIM:617925
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Natal tooth, Narrow mouth, Supernumerary tooth... ORPHA:2108
Robinow Syndrome, Autosomal Recessive 1
Narrow palate, Microglossia, Dental crowding, Downturned corners of mouth, Long philtrum, Tooth a... OMIM:268310
Au-Kline Syndrome
Bifid uvula, Gastroesophageal reflux, Dental malocclusion, Downturned corners of mouth, Open mout... OMIM:616580
Pelvis-Shoulder Dysplasia
Microglossia, Cleft palate, Thick anterior alveolar ridges ORPHA:2839
Angelman Syndrome
Gastroesophageal reflux, Widely spaced teeth, Wide mouth, Protruding tongue, Abnormality of the g... ORPHA:72
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix ORPHA:974
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Otopalatodigital Syndrome Type 2
Narrow mouth, Oligodontia, Anodontia, Glossoptosis, Cleft palate, Pierre-Robin sequence ORPHA:90652
Opitz Gbbb Syndrome
Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Hypodontia, Ectopic anus, Anal atresia, Tra... ORPHA:2745
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, High palate, Dental crowding, Esophageal varix ORPHA:394
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Median cleft upper... OMIM:269860
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... OMIM:180700
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Narrow mouth, Protruding tongue, Smooth philtrum, Thick vermilion border OMIM:608779
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Feingold Syndrome 1
Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Everted lower lip vermilion, Gast... OMIM:164280
Autosomal Dominant Robinow Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Open bite, Gingival overgrowth, ... ORPHA:3107
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Ankyloglossia, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, Clef... ORPHA:261330
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Immunodeficiency 23
High palate, Esophageal stricture OMIM:615816
Cerebrocostomandibular Syndrome
Short hard palate, Glossoptosis, Cleft palate ORPHA:1393
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Abnormal esophagus physiology, Abnormal esophagus morphology... ORPHA:99921
Giant Cell Arteritis
Gastrointestinal infarctions, Glossitis ORPHA:397
Developmental And Epileptic Encephalopathy 100
Gastroesophageal reflux, Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Micr... OMIM:619777
Leukocyte Adhesion Deficiency Type Ii
Gingival overgrowth, Protruding tongue, Recurrent gastroenteritis, Deep philtrum, Long upper lip,... ORPHA:99843
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Ectopic anus, Esophageal atresia, Na... OMIM:101200
Revesz Syndrome
Oral leukoplakia OMIM:268130
Marshall-Smith Syndrome
Eclabion, Anteriorly placed anus, Gingival overgrowth, Irregular dentition, Microdontia, Short ph... OMIM:602535
Smith-Lemli-Opitz Syndrome
Microglossia, Gastroesophageal reflux, Long philtrum, Tooth agenesis, Abnormal dental enamel morp... ORPHA:818
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix OMIM:263200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper lip, Cleft palate OMIM:263520
Distal Deletion 12Q
High, narrow palate, Microglossia, Long philtrum, Median cleft upper lip, Smooth philtrum, Esopha... ORPHA:96149
Maternal Phenylketonuria
High palate, Esophageal atresia, Long philtrum ORPHA:2209
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Gastroesophageal reflux, Open mouth, Protruding tongue, Macroglossia, Dysphagia ORPHA:258
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Gastroesophageal reflux, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narr... ORPHA:79408
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Cleft soft palate, Increased overb... OMIM:620450
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Esophageal varix ORPHA:264580
Fryns Syndrome
Meckel diverticulum, Long philtrum, Cleft upper lip, Intestinal malrotation, Tented upper lip ver... OMIM:229850
Dyskeratosis Congenita, X-Linked
Carious teeth, Oral leukoplakia, Anal mucosal leukoplakia, Esophageal stricture, Premature loss o... OMIM:305000
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Protruding tongue, Macroglossia, High palate, Dysphagia OMIM:214100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Cleft lip, Gastroesophageal reflux, Furrowed tongue, Smooth philtrum, High... OMIM:616975
Joubert Syndrome 1
Macroglossia, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Eclabion, Gastroesophageal reflux, Downturned corners of mouth, Widely space... OMIM:619950
Mirage Syndrome
Gastroesophageal reflux, Achalasia, Esophageal stricture OMIM:617053
Trisomy 18
Narrow mouth, Anal atresia, Esophageal atresia, Narrow palate, Non-midline cleft of the upper lip... ORPHA:3380
Stuve-Wiedemann Syndrome 1
Carious teeth, Smooth tongue, Pursed lips, Thin vermilion border, Dysphagia OMIM:601559
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Tracheoesophageal fistula, Esophageal atresia, Wide mouth OMIM:301030
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Carious teeth, Gastroesophageal reflux, Long philtrum, Widely spaced teeth, ... OMIM:615873
Fanconi Anemia, Complementation Group L
Anal atresia, Tracheoesophageal fistula, Esophageal atresia, Cleft palate OMIM:614083
Catel-Manzke Syndrome
Bifid uvula, Cleft upper lip, Narrow mouth, High palate, Glossoptosis, Cleft palate, Pierre-Robin... OMIM:616145
Primary Biliary Cholangitis
Gastrointestinal inflammation, Steatorrhea, Celiac disease, Esophageal varix, Hepatocellular carc... ORPHA:186
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Anal stenosis, Esophageal atresia OMIM:250250
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Ganglioneuromatosis, Aganglionic megacolon, Neoplasm of the liver, Th... ORPHA:653
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Long philtrum ORPHA:250989
Glucagonoma
Gastrointestinal hemorrhage, Abnormal gastrointestinal motility, Intestinal obstruction, Steatorr... ORPHA:97280
Familial Mediterranean Fever
Gastrointestinal infarctions, Oral leukoplakia, Intestinal obstruction ORPHA:342
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Aplasia of the epiglottis, B... OMIM:615948
Hardikar Syndrome
Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera... OMIM:301068
Orofaciodigital Syndrome Type 14
Hamartoma of tongue, Accessory oral frenulum, Aplasia of the epiglottis, Bifid tongue, Supernumer... ORPHA:434179
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Caroli Disease
Cholangiocarcinoma, Esophageal varix ORPHA:53035
Stickler Syndrome
Bifid uvula, Gastroesophageal reflux, Long philtrum, Cleft upper lip, Open bite, Abnormal dental ... ORPHA:828
Vacterl With Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Esophageal atresia ORPHA:3412
Cousin Syndrome
Microglossia, Cleft palate, Alveolar ridge overgrowth OMIM:260660
Progeroid Short Stature With Pigmented Nevi
Hypodontia, Irregular dentition, Esophageal ulceration OMIM:176690
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Aphthous ulcer, Esophageal varix, Oral ulcer OMIM:615688
Cowden Syndrome
Furrowed tongue, Colorectal polyposis, Macroglossia, High palate, Hamartomatous polyposis ORPHA:201
Meckel Syndrome, Type 1
Natal tooth, Cleft upper lip, Intestinal malrotation, Thin upper lip vermilion, Smooth philtrum, ... OMIM:249000
Pallister-Hall Syndrome
Microglossia, Natal tooth, Cleft upper lip, Anteriorly placed anus, Anal atresia, Cleft palate OMIM:146510
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Downturned corners of mouth, Cleft palate ORPHA:488642
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Ma... ORPHA:444077
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Anteriorly placed anus, Enamel hypoplasia, Cleft palate OMIM:151050
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intestinal malrotation, High palate, Gastroesophageal reflux, Esophageal varix OMIM:613658
Distal Deletion 15Q
Abnormality of the dentition, Thin upper lip vermilion, Bifid tongue, Short philtrum, Cleft palate ORPHA:1596
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, High palate, Protruding tongue OMIM:617062
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Glossitis, Stomatitis ORPHA:79282
Caroli Syndrome
Hematemesis, Cholangiocarcinoma, Esophageal varix, Melena ORPHA:480520
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Long philtrum ORPHA:50945
Down Syndrome
Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia OMIM:190685
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Cleft lip, Meckel diverticulum, Intestinal malrotation, Tra... OMIM:265380
Okamoto Syndrome
Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Downturned corners of m... ORPHA:2729
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Gastroesophageal reflux, Thick lower lip vermilion, Wide mouth, Open mouth, Protruding tongue, Te... OMIM:309580
Arima Syndrome
Wide mouth, Esophageal varix OMIM:243910
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Yunis-Varon Syndrome
High, narrow palate, Gingival recession, Broad secondary alveolar ridge, Premature loss of primar... ORPHA:3472
Kawasaki Disease
Strawberry tongue, Lip fissure, Glossitis, Cheilitis ORPHA:2331
Senior-Boichis Syndrome
Esophageal varix ORPHA:84081
Fraser Syndrome
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Anorectal anomaly, Orofacia... ORPHA:2052
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Bilateral Perisylvian Polymicrogyria
Gastroesophageal reflux, Dysphagia, Protruding tongue, Pseudobulbar paralysis ORPHA:98889
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dysphagia, Esophageal stricture ORPHA:36426
Meckel Syndrome
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:564
Lysosomal Acid Lipase Deficiency
Steatorrhea, Esophageal varix ORPHA:275761
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatoblastoma, Cholangiocarcinoma, Fat ... ORPHA:731
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Gastroesophageal reflux, An... OMIM:620186
Fontaine Progeroid Syndrome
High, narrow palate, Gastroesophageal reflux, Long philtrum, Anteriorly placed anus, Narrow mouth... OMIM:612289
Degcags Syndrome
Gastroesophageal reflux, Long philtrum, Oral-pharyngeal dysphagia, Protruding tongue, Jejunal atr... OMIM:619488
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, Anal atresia ORPHA:93271
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Agenesis of permanent te... OMIM:619503
Smith-Lemli-Opitz Syndrome
Bifid uvula, Microglossia, Dental crowding, Gastroesophageal reflux, Long philtrum, Intestinal ma... OMIM:270400
Gabriele-De Vries Syndrome
Abnormality of the dentition, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Abnormality o... ORPHA:506358
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Gastrointestinal arteri... ORPHA:774
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Plague
Inflammation of the large intestine, Chapped lip, Ileitis, Enterocolitis, Hematemesis, Glossitis ORPHA:707
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia OMIM:227646
Wilson Disease
Dysphagia, Esophageal varix, Hepatocellular carcinoma OMIM:277900
Congenital Tracheomalacia
Tracheoesophageal fistula, Esophageal atresia, Gastroesophageal reflux ORPHA:95430
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short uvula, Ankyloglossia, Thin upper lip vermilion, Smooth philtrum, Short... OMIM:619475
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue ORPHA:3206
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Erosion of oral mucosa, Enamel hypoplasia, Gastrointestinal infl... ORPHA:79404
Microsporidiosis
Glossitis ORPHA:2552
Chilton-Okur-Chung Neurodevelopmental Syndrome
Widely spaced teeth, Ankyloglossia, Thin upper lip vermilion, Smooth philtrum, Agenesis of inciso... OMIM:619841
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix ORPHA:2072
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Submucous cleft lip, Exaggerated median tongue furrow, Dental malocclusion, Meckel... OMIM:312870
Microphthalmia, Syndromic 3
Esophageal atresia OMIM:206900
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Delayed eruption of teeth, Impacted tooth, Ankyloglossia, Persistence of primary... ORPHA:740
Neuroocular Syndrome 1
Short uvula, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, Submucous cleft har... OMIM:619539
Carney Complex
Abnormal hard palate morphology, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the sto... ORPHA:1359
Congenital Disorder Of Glycosylation, Type Iiw
Ankyloglossia, Supernumerary tooth, Gastroesophageal reflux OMIM:619525
Vater/Vacterl Association
Anal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:192350
Charge Syndrome
Anal stenosis, Cleft upper lip, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Dysp... OMIM:214800
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Natal tooth, Microglossia, Anal atresia, Cleft palate, Accessory oral fre... ORPHA:672
Microphthalmia, Syndromic 6
Bifid uvula, High palate, Microglossia, Cleft palate OMIM:607932
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Everted lower lip vermilion, Esophageal varix OMIM:619534
Choreoacanthocytosis
Dysphagia, Protruding tongue ORPHA:2388
Alström Syndrome
Gastroesophageal reflux, Tooth agenesis, Gingivitis, Abnormality of dental color, Esophageal varix ORPHA:64
White Sponge Nevus 2
OMIM:615785

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 Krt13

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 Krt13.

No publications found that use IMPC mice or data for Krt13.

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
Krt13tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Krt13em1(IMPC)Ccpcz Intra-exon deletion Mice
Krt13tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Krt13tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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