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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
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
White Sponge Nevus 1
Oral leukoplakia OMIM:193900
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Tylosis With Esophageal Cancer
Esophageal carcinoma, Oral leukoplakia OMIM:148500
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:613435
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Dyskeratosis, Hereditary Benign Intraepithelial
Oral leukoplakia OMIM:127600
Barrett Esophagus
Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration OMIM:614266
Hartnup Disorder
Glossitis OMIM:234500
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Narrow mouth,... ORPHA:54028
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Oral leukoplakia OMIM:615735
Macroglossia
Macroglossia OMIM:153630
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Auriculocondylar Syndrome 2A
Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Cleft palate, Glo... OMIM:614669
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition OMIM:616553
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Dyskeratosis Congenita, Autosomal Recessive 3
Oral leukoplakia, Squamous cell carcinoma of the tongue OMIM:613988
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Pachyonychia Congenita 1
Oral leukoplakia OMIM:167200
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... ORPHA:3241
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue ORPHA:1839
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia OMIM:158900
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia OMIM:277720
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Dysphagia, Narro... OMIM:226600
Cataract-Intellectual Disability-Hypogonadism Syndrome
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition ORPHA:1387
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Hypodontia, Dysphagia, Enamel hypoplasia OMIM:616029
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum OMIM:613443
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Gastroesophageal refl... OMIM:613604
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle aplasia, Dental malocclusi... ORPHA:137888
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... OMIM:258860
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Premature loss of teeth, Oral leukoplakia OMIM:616353
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... OMIM:174300
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Seckel Syndrome 2
Microdontia, Microglossia OMIM:606744
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... OMIM:616367
Joubert Syndrome 18
Lobulated tongue, Cleft palate OMIM:614815
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dysphagia, Gastroesophage... ORPHA:89842
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Pachyonychia Congenita 2
Natal tooth, Oral leukoplakia, Angular cheilitis OMIM:167210
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Narrow palate, Gastroesophageal reflux ORPHA:313892
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Gastrointestinal dysmotility ORPHA:531151
Dyskeratosis Congenita, Autosomal Recessive 2
Oral leukoplakia OMIM:613987
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Trisomy 8Q
Non-midline cleft lip, Orofacial cleft, Cleft palate, Abnormal oral frenulum morphology, High pal... ORPHA:1752
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Gastroesophageal reflux, Protruding tongue OMIM:614325
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Periodontitis, Dysphagia, Oral leu... OMIM:173650
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:614153
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue OMIM:614204
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Oral leukoplakia OMIM:619767
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue ORPHA:2759
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Cleft palate, Narrow mouth OMIM:202650
Dyskeratosis Congenita, Autosomal Recessive 1
Microdontia, Esophageal stricture, Carious teeth, Oral leukoplakia OMIM:224230
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth OMIM:615065
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Thick vermilion border, Abnormal esophagus morphology, D... OMIM:613706
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... ORPHA:989
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Mulibrey Nanism
Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia OMIM:253250
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma OMIM:619463
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Premature loss of primary teeth, Abnormality of the de... ORPHA:2907
Lelis Syndrome
Carious teeth, Hypodontia, Furrowed tongue ORPHA:140936
Bronchogenic Cyst
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology ORPHA:2357
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... ORPHA:131
Wolman Disease
Esophageal varix, Steatorrhea ORPHA:75233
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... ORPHA:1358
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Cleft palate OMIM:241800
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... ORPHA:2752
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Icf Syndrome
Macroglossia, Malabsorption, Protruding tongue ORPHA:2268
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Dysphagia ORPHA:276198
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... OMIM:618106
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue ORPHA:98795
Bone Marrow Failure Syndrome 5
Oral leukoplakia OMIM:618165
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... OMIM:252100
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Cheilitis, Oral leukoplakia, Angular cheilitis OMIM:616295
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Protruding tongue OMIM:242860
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Oral leukoplakia, Angular cheilitis ORPHA:2309
Hereditary Folate Malabsorption
Gastroesophageal reflux, Glossitis, Cheilitis ORPHA:90045
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Oral leukoplakia, Furrowed tongue OMIM:148210
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Oral leukoplakia, Abnormality of the dentition OMIM:613989
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Enamel hypoplasia, Congenital pyloric atresia, Oral mucosal blisters OMIM:226730
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Gastroesophageal reflux, Dysphagia, Ac... ORPHA:1018
Distal Limb Deficiencies-Micrognathia Syndrome
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia ORPHA:1307
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615108
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Bifid uvula OMIM:612938
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Enamel... ORPHA:79409
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mouth, Anal atresia ORPHA:59315
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Glycogen Storage Disease Iv
Esophageal varix OMIM:232500
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615109
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... OMIM:616449
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue ORPHA:411511
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia OMIM:615272
Mandibuloacral Dysplasia
Abnormal tongue morphology, High palate, Dental crowding, Hypoplasia of teeth ORPHA:2457
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... OMIM:618874
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth ORPHA:1790
X-Linked Agammaglobulinemia
Glossoptosis, Malabsorption ORPHA:47
Dyskeratosis Congenita, Digenic
Gastroesophageal reflux, Oral leukoplakia, Dysphagia, Abnormality of the dentition OMIM:620040
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Macroglossia, Everted lower lip ver... OMIM:610253
Immunodeficiency 12
Esophageal stricture, Recurrent aphthous stomatitis, Cheilitis OMIM:615468
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis OMIM:277380
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Short philtrum, Hig... ORPHA:958
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Protruding tongue ORPHA:53351
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve... ORPHA:570
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... OMIM:618580
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... OMIM:611209
Feingold Syndrome
Esophageal atresia, Orofacial cleft, Duodenal atresia ORPHA:1305
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Myopathy, Myofibrillar, 7
Tongue atrophy, Dysphagia OMIM:617114
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Dyskeratosis Congenita
Esophageal stenosis, Malabsorption, Abnormality of the dentition, Carious teeth, Anorectal anomal... ORPHA:1775
Orofaciodigital Syndrome I
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... OMIM:311200
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum OMIM:311900
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Enamel hypoplasia OMIM:614576
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Protruding tongue ORPHA:561
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... OMIM:613091
Ritscher-Schinzel Syndrome 2
High palate, Intestinal malrotation, Short philtrum, Protruding tongue OMIM:300963
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Cleidocranial Dysplasia
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... ORPHA:1452
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Esophageal stenosis, Downturned corners of mouth, Short philtrum, Dysphagia, Achalasia OMIM:615510
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... OMIM:212066
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue OMIM:105830
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum ORPHA:1051
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:158350
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Orofaciodigital Syndrome Type 6
Hamartoma of tongue, Cleft palate, Midline notch of upper alveolar ridge, Lobulated tongue, Abnor... ORPHA:2754
Hoyeraal-Hreidarsson Syndrome
Oral leukoplakia ORPHA:3322
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:211530
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum OMIM:300534
Ring Chromosome 22 Syndrome
Thick vermilion border, Protruding tongue ORPHA:1446
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Cleft palate, Furrowed t... ORPHA:453499
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:3157
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... ORPHA:861
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... OMIM:616894
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob... OMIM:616300
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Bifid uvula, Cleft palate ORPHA:1427
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... OMIM:277170
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... ORPHA:193
Juvenile Sialidosis Type 2
Gingival overgrowth, Dysphagia, Protruding tongue ORPHA:93399
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Protruding tongue OMIM:619179
Coach Syndrome 1
Wide mouth, Esophageal varix OMIM:216360
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Sup... ORPHA:1507
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Gm1-Gangliosidosis, Type Ii
Narrow mouth, Gingival overgrowth, Dysphagia, Protruding tongue OMIM:230600
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Orofaciodigital Syndrome Type 1
Median cleft lip, Abnormal dental enamel morphology, Hamartoma of tongue, Accessory oral frenulum... ORPHA:2750
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... OMIM:117650
Cirrhosis, Familial
Esophageal varix OMIM:215600
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Gastroesophageal reflux, Dysphagi... OMIM:254940
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Widely spaced teeth, Dysphagia, Protruding tongue ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Narrow palate, Thick vermilion border, High palate, Na... OMIM:616078
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum OMIM:617804
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Deep philtrum, Cleft palate OMIM:610536
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix ORPHA:367
Kindler Epidermolysis Bullosa
Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teeth, Esophageal str... ORPHA:2908
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:352665
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Dyskeratosis Congenita, Autosomal Dominant 1
Carious teeth, Premature loss of teeth, Oral leukoplakia OMIM:127550
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Apert Syndrome
Delayed eruption of teeth, Esophageal atresia, Cleft palate, Narrow palate, Ectopic anus, Bifid u... ORPHA:87
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... ORPHA:464738
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia OMIM:613990
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue ORPHA:96147
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Cholesteryl Ester Storage Disease
Esophageal varix, Steatorrhea OMIM:278000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Diastema, Thick lower lip vermilion, Macroglossia, Widely-spaced maxillary cen... OMIM:301040
Fanconi Anemia, Complementation Group B
Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Tarp Syndrome
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... ORPHA:2886
Agel Amyloidosis
Tongue atrophy, Xerostomia ORPHA:85448
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Anal atresia OMIM:617925
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia OMIM:612199
Mucoepithelial Dysplasia, Hereditary
Melena, Erythematous oral mucosa, Furrowed tongue OMIM:158310
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... ORPHA:769
Kinsship Syndrome
Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Downturned corners of m... OMIM:619297
Revesz Syndrome
Oral leukoplakia OMIM:268130
Robinow Syndrome
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... ORPHA:97360
Raine Syndrome
Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, High palate, Narro... OMIM:259775
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix ORPHA:974
Au-Kline Syndrome
Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Gastroe... OMIM:616580
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Cleft palate ORPHA:2839
Angelman Syndrome
Abnormality of the gastrointestinal tract, Protruding tongue, Wide mouth, Gastroesophageal reflux... ORPHA:72
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... ORPHA:2108
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Classic Homocystinuria
Gastrointestinal hemorrhage, Esophageal varix, High palate, Dental crowding ORPHA:394
Otopalatodigital Syndrome Type 2
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia ORPHA:90652
Familial Mediterranean Fever
Gastrointestinal infarctions, Intestinal obstruction, Oral leukoplakia, Malabsorption ORPHA:342
Opitz Gbbb Syndrome
Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Dysphagia, Ectopic anus, High pa... ORPHA:2745
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Med... OMIM:269860
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... OMIM:180700
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Gastroesophageal reflux, Thick vermilion border, Narrow mouth, Smooth philtrum OMIM:608779
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... OMIM:164280
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Cleft palate, Narrow mouth, Anky... ORPHA:261330
Autosomal Dominant Robinow Syndrome
Open bite, High, narrow palate, Abnormality of the gingiva, Supernumerary tooth, Gingival overgro... ORPHA:3107
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Cleft palate ORPHA:1393
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... OMIM:268310
Immunodeficiency 23
Esophageal stricture, High palate OMIM:615816
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations ORPHA:99949
Giant Cell Arteritis
Gastrointestinal infarctions, Glossitis ORPHA:397
Cartilage-Hair Hypoplasia
Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption OMIM:250250
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Protruding tongue, Deep philtrum, Gingival overgrowth, Narrow palate, Recur... ORPHA:99843
Apert Syndrome
Delayed eruption of teeth, Pyloric stenosis, Esophageal atresia, Dental malocclusion, Narrow pala... OMIM:101200
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Gastroesophageal... OMIM:619777
Distal Deletion 12Q
Median cleft lip, High, narrow palate, Esophageal atresia, Pyloric stenosis, Supernumerary tooth,... ORPHA:96149
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia OMIM:263520
Maternal Phenylketonuria
Esophageal atresia, High palate, Long philtrum ORPHA:2209
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Esophageal varix, Hepatocellular adenoma ORPHA:264580
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste... ORPHA:818
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix OMIM:263200
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Anteriorly placed anus, Glo... OMIM:602535
Chronic Graft Versus Host Disease
Esophageal stricture, Xerostomia, Abnormal esophagus physiology, Gastroesophageal reflux, Dysphag... ORPHA:99921
Fryns Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upper lip, Esoph... OMIM:229850
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Cleft palate OMIM:614083
Peroxisome Biogenesis Disorder 1A (Zellweger)
Protruding tongue, High, narrow palate, Macroglossia, High palate, Dysphagia OMIM:214100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Gastroesophageal reflux, Smooth p... OMIM:616975
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide mouth, Bifid uvula OMIM:301030
Trisomy 18
Esophageal atresia, Non-midline cleft lip, Narrow palate, Cleft palate, Narrow mouth, Anal atresia ORPHA:3380
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Macroglossia, Gastroesophageal reflux, Dysphagia, Open mouth ORPHA:258
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... OMIM:619950
Stuve-Wiedemann Syndrome 1
Pursed lips, Carious teeth, Thin vermilion border, Smooth tongue, Dysphagia OMIM:601559
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Dysphagia, Gastrointe... ORPHA:79408
Mirage Syndrome
Esophageal stricture, Achalasia, Gastroesophageal reflux OMIM:617053
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... OMIM:616145
Joubert Syndrome 1
Macroglossia, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Dyskeratosis Congenita, X-Linked
Carious teeth, Esophageal stricture, Premature loss of teeth, Oral leukoplakia, Anal mucosal leuk... OMIM:305000
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Thick vermilion border,... ORPHA:653
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Dysphagi... OMIM:615873
Glucagonoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormal gastrointestinal motility, Steatorr... ORPHA:97280
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Cleft palate, Aplasia of the ep... OMIM:615948
Orofaciodigital Syndrome Type 14
Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palate, Aplasia of the e... ORPHA:434179
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Long philtrum ORPHA:250989
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... OMIM:301068
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Microglossia, Anal atresia OMIM:146510
Stickler Syndrome
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Macroglossia, Glosso... ORPHA:828
Vacterl With Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia ORPHA:3412
Caroli Disease
Cholangiocarcinoma, Esophageal varix ORPHA:53035
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... OMIM:249000
Cousin Syndrome
Microglossia, Alveolar ridge overgrowth, Cleft palate OMIM:260660
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Aphthous ulcer, Esophageal varix, Oral ulcer OMIM:615688
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate ORPHA:201
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, High palate, Protruding tongue OMIM:617062
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Ankyloglossia, Cleft palate ORPHA:488642
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Esophageal ulceration, Hypodontia OMIM:176690
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Macroglossia, Glossoptosis, High palate, G... ORPHA:444077
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Enamel hypoplasia OMIM:151050
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Protruding tongue ORPHA:50945
Caroli Syndrome
Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis ORPHA:480520
Distal Deletion 15Q
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Bifid tongue ORPHA:1596
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Esophageal varix, High palate, Intestinal malrotation OMIM:613658
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, Cleft palate, C... OMIM:265380
Arima Syndrome
Wide mouth, Esophageal varix OMIM:243910
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Wilson Disease
Esophageal varix, Dysphagia, Hepatocellular carcinoma OMIM:277900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Fraser Syndrome
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... ORPHA:2052
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... ORPHA:2729
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Tented upper lip vermilion, Protruding tongue, Hypoplastic philtrum, Th... OMIM:309580
Senior-Boichis Syndrome
Esophageal varix ORPHA:84081
Yunis-Varon Syndrome
Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st... ORPHA:3472
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Gastroesophageal reflux, Dysphagia, Protruding tongue ORPHA:98889
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue ORPHA:564
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Esophageal stricture, Dysphagia ORPHA:36426
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... ORPHA:731
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea ORPHA:275761
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth, Gastroesophage... OMIM:620186
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Protruding tongue, High, narrow palate, Anteriorly placed anus, Oligodo... OMIM:612289
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal atresia ORPHA:93271
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Dental crowding, Pyloric stenosis, Gastrointestina... OMIM:270400
Degcags Syndrome
Jejunal atresia, Hiatus hernia, Protruding tongue, Pyloric stenosis, Oral-pharyngeal dysphagia, W... OMIM:619488
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Deep phi... OMIM:619503
Gabriele-De Vries Syndrome
Abnormality of upper lip vermillion, Abnormality of the dentition, Oral-pharyngeal dysphagia, Eso... ORPHA:506358
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Tracheoesophageal fistula OMIM:227646
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula ORPHA:95430
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, High, narrow palate, Short uvula, Broad philtrum, High palate, Short ph... OMIM:619475
Stüve-Wiedemann Syndrome
Smooth tongue, Abnormality of the dentition ORPHA:3206
Microsporidiosis
Glossitis ORPHA:2552
Plague
Chapped lip, Hematemesis, Enterocolitis, Inflammation of the large intestine, Glossitis ORPHA:707
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Esophageal stricture, Gastrointestinal i... ORPHA:79404
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Agenesis of incisor, Wide mouth, Widely spaced teeth, Short philtrum, A... OMIM:619841
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix ORPHA:2072
Microphthalmia, Syndromic 3
Esophageal atresia OMIM:206900
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Submucous cleft lip, Dental malocclusio... OMIM:312870
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... ORPHA:740
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... ORPHA:1359
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Supernumerary tooth, Ankyloglossia OMIM:619525
Charge Syndrome
Anal stenosis, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysp... OMIM:214800
Vater/Vacterl Association
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:192350
Pallister-Hall Syndrome
Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Microglossia, Bifid uvula, Anal at... ORPHA:672
Microphthalmia, Syndromic 6
Microglossia, High palate, Bifid uvula, 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
Abnormality of dental color, Esophageal varix, Gingivitis, Tooth agenesis, Gastroesophageal reflux 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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