Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
keratin 6A
Synonyms:
MK6a,  Krt2-6c,  mK6[a],  Krt2-6a

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Krt6a 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 Krt6a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Krt6a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pierre Robin Syndrome
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:261800
High-Grade Dysplasia In Patients With Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Dysphagia, Esophageal obstruction ORPHA:231080
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:311895
Hartnup Disorder
Glossitis, Attention deficit hyperactivity disorder, Hyperactivity, Short stature OMIM:234500
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Hyperkeratosis, Short stature, Enamel hypopl... OMIM:616029
Plummer-Vinson Syndrome
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Geophagia, Esophageal web, Dysp... ORPHA:54028
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Weight loss, Microglossia ORPHA:141152
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Dysphagia OMIM:617732
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Short stature, Failure to thrive, Cleft palate ORPHA:1388
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Auriculocondylar Syndrome 4
Narrow mouth, Cleft palate, Glossoptosis OMIM:620457
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Tongue atrophy ORPHA:496689
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Dysphagia, Tongue atrophy OMIM:613435
Satb2-Associated Syndrome Due To A Pathogenic Variant
Postnatal growth retardation, Long philtrum, Gastroesophageal reflux, High palate, Abnormality of... ORPHA:576283
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Neonatal death, Oral mucosal blisters, Congenital pyloric atresia OMIM:619817
Lipoid Proteinosis
Thick lower lip vermilion, Hyperkeratosis, High palate, Abnormality of the gingiva, Abnormal oral... ORPHA:530
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Abnormal esophagus morphology, Growth delay, Spontaneous esophageal perforation, En... OMIM:226600
Atypical Pantothenate Kinase-Associated Neurodegeneration
Compulsive behaviors, Impulsivity, Dysphagia, Violent behavior, Tongue atrophy ORPHA:216873
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anal fissure, Gastroesophageal reflux, Narrow mouth, Abnormal esophagus morpholo... ORPHA:89842
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Narrow mouth... OMIM:614669
Burning Mouth Syndrome
Smooth tongue, Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Abnorm... ORPHA:353253
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Truncal obesity, Furrowed tongue ORPHA:2928
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Noonan Syndrome 7
Large for gestational age, Abnormal esophagus morphology, Short stature, Growth delay, Impaired o... OMIM:613706
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Esophageal stenosis, Intrauterine growth retardation, Colitis OMIM:615190
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Oral leukoplakia, Folli... OMIM:148500
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Downturned corners of mouth, Smooth philtrum, Protruding tongue OMIM:618732
Dyskeratosis Congenita, Autosomal Dominant 6
Intrauterine growth retardation, Esophageal stenosis, Abnormality of the dentition, Oral leukoplakia OMIM:616553
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Cachexia, Abnormal gast... ORPHA:1876
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Cleft palate, Glossoptosis ORPHA:166100
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Short philtrum, High palate, Narrow mouth, Pyloric stenosis, Short ... ORPHA:96184
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Tongue atrophy OMIM:158900
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Hyperkeratosis, Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula ORPHA:1839
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Delayed eruption of teeth, Tongue atrophy OMIM:141300
Cronkhite-Canada Syndrome
Anorexia, Intestinal polyposis, Stomach cancer, Cachexia, Furrowed tongue, Hamartomatous polyposi... ORPHA:2930
Wolman Disease
Growth delay, Cachexia, Steatorrhea, Esophageal varix ORPHA:75233
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Narrow mouth, Small for gestational age, Microglossia OMIM:227270
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Gastroesophageal reflux, High palate, Glossoptosis, Short stature, Growth delay, Pierre-Robin seq... OMIM:613604
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, High palate, Everted lower lip vermilion, Furrowed tongue, Sho... ORPHA:1387
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B... ORPHA:199306
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Seckel Syndrome 2
Microdontia, Short stature, Growth delay, Microglossia, Small for gestational age OMIM:606744
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Gastroesophageal reflux, Dental crowding, Exaggerated median tongue furrow, Motor ... ORPHA:313892
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnorma... ORPHA:1018
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Postnatal growth retardation, Gastroesophageal reflux, Hyperactivity, High palate, Failure to thr... OMIM:620242
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Growth delay, Gastrointestinal hemorrhage, Esophageal varix, Intrauterine growth retardation OMIM:617341
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Short stature, Hypodontia, Submucous cleft hard palate ORPHA:3201
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Microglossia, Long philtrum OMIM:277720
Pachyonychia Congenita 3
Palmoplantar keratoderma, Gingivitis, Furrowed tongue, Plantar hyperkeratosis, Oral leukoplakia, ... OMIM:615726
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Downturned corners of mouth, Lobulated tongue, Motor stereotypy, Thin upper lip v... OMIM:613443
Tetrasomy 12P
Abnormal soft palate morphology, Delayed eruption of teeth, Cachexia, Everted lower lip vermilion... ORPHA:884
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Tongue thrusting, Recurrent hand flapping, Protruding tongue, Obesity, Inapp... ORPHA:411511
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Non-Syndromic Posterior Hypospadias
Small for gestational age, Cleft palate, Esophageal atresia, Anal atresia ORPHA:95706
Immunodeficiency 12
Cheilitis, Recurrent aphthous stomatitis, Decreased body weight, Short stature, Growth delay, Eso... OMIM:615468
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na... OMIM:602483
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Esophageal varix, Growth delay, Enamel hypoplasia, Inflammation of the large inte... OMIM:614576
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Short stature, Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:620269
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Failure to thrive, Cleft palate, Glossoptosis, Aggressive behavior OMIM:618356
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Glossitis, Cachexia, Hamartomatous polyposis, Hematochezia,... OMIM:175500
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Clark-Baraitser syndrome
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... OMIM:300602
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia, Weight loss ORPHA:2221
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Hypoglossia With Situs Inversus
Narrow mouth, Hypodontia, High palate, Microglossia OMIM:612776
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ankyloglossia, Cleft palate, Bifid uvula, Lobulated tongue, O... OMIM:174300
Orofaciodigital Syndrome Iv
High palate, Tongue nodules, Short stature, Cleft palate, Lobulated tongue, Accessory oral frenul... OMIM:258860
Septo-Optic Dysplasia Spectrum
Polydipsia, Esophageal atresia, Tracheoesophageal fistula, Short stature, Obesity, Cleft palate ORPHA:3157
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Growth delay, Carious teeth, Esophageal stricture, Oral mucosal bl... ORPHA:79409
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,... ORPHA:3241
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Downturned corners of mouth, Abnormal tongue morphology, Gastrointe... ORPHA:531151
Hereditary Folate Malabsorption
Anorexia, Cheilitis, Gastroesophageal reflux, Glossitis, Failure to thrive ORPHA:90045
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Nar... ORPHA:137888
Orofaciodigital Syndrome Iii
Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue OMIM:258850
Acrodermatitis Enteropathica
Anorexia, Cheilitis, Glossitis, Furrowed tongue, Short stature, Failure to thrive, Weight loss, A... ORPHA:37
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro... OMIM:620107
Pontocerebellar Hypoplasia, Type 1B
Growth delay, Tongue fasciculations, Tongue atrophy OMIM:614678
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Thin vermilion border, Gingival overgrowth, Everted lower lip vermi... OMIM:212066
Joubert Syndrome 18
Intrauterine growth retardation, Cleft palate, Lobulated tongue OMIM:614815
Kindler Syndrome
Anal stenosis, Periodontitis, Palmoplantar hyperkeratosis, Gingivitis, Carious teeth, Dysphagia, ... OMIM:173650
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Tracheoesophageal fistula, Short stature, Attention deficit hyperactivity dis... OMIM:619227
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Esophageal atresia, Cleft soft palate OMIM:614526
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Esophageal var... ORPHA:131
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Short stature, Failure to thrive, Palmoplantar hyperkeratosis, Oral... OMIM:613989
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Protruding tongue, Failure to thrive, Bifid uvula, Cleft palate, Intrauter... OMIM:612938
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Short philtrum, Hyperkeratosis, Downturned corners of mouth, Dysphagia, Achalasia, Esophageal ste... OMIM:615510
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, High palate, Furrowed tongue, Decreased body weight, Short stature, Failure to thr... OMIM:300534
Mulibrey Nanism
Dental crowding, Short stature, Enamel hypoplasia, Growth delay, Microglossia, Hypodontia, Dental... OMIM:253250
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma... ORPHA:158668
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p... OMIM:147060
Fanconi Anemia, Complementation Group Q
Growth delay, Anteriorly placed anus, Esophageal atresia, Short stature OMIM:615272
Glycogen Storage Disease Iv
Failure to thrive, Esophageal varix OMIM:232500
Methimazole Embryofetopathy
Intrauterine growth retardation, Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Tongue thrusting, Hyperactivity, Recurrent hand flapping, Protruding tongue,... ORPHA:98794
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft palate, Bifid tongue ORPHA:2001
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Ankyloglossia, Short stature, Enamel hypoplasia, Failure to ... OMIM:618874
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Intrauterine growth retardatio... OMIM:620133
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma OMIM:619463
Psoriasis 14, Pustular
Geographic tongue, Parakeratosis, Furrowed tongue OMIM:614204
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Narrow mouth, Microglossia ORPHA:1972
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Short stature, Wide mouth, Thick vermilion borde... OMIM:618106
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology ORPHA:252164
Kleefstra Syndrome 1
Gastroesophageal reflux, Everted lower lip vermilion, Compulsive behaviors, Protruding tongue, Pe... OMIM:610253
Spinocerebellar Ataxia Type 36
Attention deficit hyperactivity disorder, Tongue fasciculations, Dysphagia, Tongue atrophy ORPHA:276198
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Long phi... OMIM:200990
Lelis Syndrome
Hypodontia, Carious teeth, Furrowed tongue, Palmoplantar hyperkeratosis ORPHA:140936
Carey-Fineman-Ziter Syndrome
Thin vermilion border, High palate, Glossoptosis, Short stature, Growth delay, Cleft palate, Pier... ORPHA:1358
Spinocerebellar Ataxia 36
Tongue fasciculations, Dysphagia, Tongue atrophy OMIM:614153
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Tongue thrusting, Protruding tongue, Wide mouth, Dysphagia ORPHA:98795
Arthrogryposis, Distal, Type 5D
Narrow mouth, Furrowed tongue, Short stature, Cleft palate, Open mouth, Tongue atrophy OMIM:615065
Pallister-Hall-Like Syndrome
Short stature, Cleft palate, Median cleft upper lip, Microglossia OMIM:241800
Congenital Disorder Of Glycosylation, Type Iig
Postnatal growth retardation, Rhizomelia, High palate, Glossoptosis, Narrow mouth, Intrauterine g... OMIM:611209
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Growth delay, Failure to thrive, Cleft palate, Intrauterine growth retarda... ORPHA:79284
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Cleft palate, Delayed eruption of pri... OMIM:616367
Tarp Syndrome
Meckel diverticulum, Glossoptosis, High palate, Failure to thrive, Neonatal death, Cleft palate, ... OMIM:311900
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Neonatal death, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Stomatitis, High palate, Tracheoesophageal fistula, Short stature, Failure to thrive, ... OMIM:277380
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Cleft palate, Glossoptosis ORPHA:440354
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Palmoplantar hyperkeratosis ORPHA:158673
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Holzgreve Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue ORPHA:2167
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Esophageal atresia, Oral mucosal blisters, Congenital pyloric atresia OMIM:226730
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Abnormal dental enamel morphology, Hyperkeratosis, Esophagitis, Gingivi... ORPHA:2908
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Stereotypical hand wringing, Protruding tongue, Short stature, Failure to th... OMIM:619179
Angelman Syndrome
Abnormality of the gastrointestinal tract, Widely spaced teeth, Gastroesophageal reflux, Tongue t... ORPHA:72
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Tracheoesophageal fistula, Impulsivity, Short stature, Growth delay, Downturn... OMIM:301030
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Failure to thrive, Macroglossia, Protruding tongue OMIM:242860
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Hyperactivity, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Frequent... OMIM:616078
Ramos-Arroyo Syndrome
Aganglionic megacolon, Severe failure to thrive, Smooth tongue, Narrow mouth, Decreased body weig... ORPHA:1051
Tetraamelia Syndrome 2
Cleft palate, Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Orofaciodigital Syndrome Ii
High palate, Agenesis of central incisor, Short stature, Cleft palate, Lobulated tongue, Accessor... OMIM:252100
X-Linked Agammaglobulinemia
Short stature, Failure to thrive, Glossoptosis, Weight loss ORPHA:47
Feingold Syndrome
Short stature, Orofacial cleft, Esophageal atresia, Duodenal atresia ORPHA:1305
Mandibuloacral Dysplasia
Postnatal growth retardation, Abnormal tongue morphology, Dental crowding, High palate, Hypoplasi... ORPHA:2457
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Trisomy 8Q
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Ab... ORPHA:1752
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Increased body weight, Esophageal varix, Short stature, ... ORPHA:264580
Coach Syndrome 1
Growth delay, Esophageal varix, Wide mouth OMIM:216360
Distal Deletion 12Q
Obsessive-compulsive trait, Supernumerary tooth, High, narrow palate, Esophageal atresia, Hyperac... ORPHA:96149
Cowden Syndrome 5
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula, Palmopl... OMIM:615108
Developmental And Epileptic Encephalopathy 80
High palate, Protruding tongue, Growth delay, Failure to thrive, Wide mouth, Tented upper lip ver... OMIM:618580
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Narrow mouth, Anal atresia, Tracheoesophageal fistula ORPHA:59315
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Esophageal varix ORPHA:367
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Dyskeratosis Congenita
Palmoplantar keratoderma, Anorectal anomaly, Periodontitis, Abnormality of the dentition, Tracheo... ORPHA:1775
Hartnup Disease
Glossitis, Gingivitis, Short stature ORPHA:2116
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve... ORPHA:364577
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Microdontia, Short stature, Cleft palate, Microglossia ORPHA:1307
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Hamartoma of to... ORPHA:2752
Odontoonychodermal Dysplasia
Follicular hyperkeratosis, Smooth tongue, Conical incisor, Abnormality of primary teeth, Palmopla... OMIM:257980
Dyskeratosis Congenita, Autosomal Recessive 1
Microdontia, Carious teeth, Palmoplantar hyperkeratosis, Oral leukoplakia, Esophageal stricture OMIM:224230
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Bruxism, Oligodontia, High pa... ORPHA:453499
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Furrowed tongue ORPHA:2483
Amyotrophic Lateral Sclerosis
Agitation, Cachexia, Dysphagia, Xerostomia, Tongue atrophy ORPHA:803
Angelman Syndrome
Widely spaced teeth, Hyperactivity, Protruding tongue, Obesity, Wide mouth, Macroglossia, Paroxys... OMIM:105830
Cohen Syndrome
Delayed puberty, High, narrow palate, Short philtrum, Gingival overgrowth, Abnormality of the den... ORPHA:193
Hepatoportal Sclerosis
Gastric varix, Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma ORPHA:64743
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... ORPHA:2538
Hypoglossia-Hypodactylia
Aglossia, Narrow mouth, Microglossia OMIM:103300
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Neonatal death, Esophageal atresia, Tracheoesophageal fistula OMIM:314390
Agnathia-Otocephaly Complex
Aglossia, Cleft palate, Narrow mouth, Microglossia OMIM:202650
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Deep philtrum, Cleft palate, Esophageal atresia OMIM:610536
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Abnormality of the philtrum ORPHA:2759
Ring Chromosome 22 Syndrome
Inappropriate behavior, Thick vermilion border, Growth delay, Protruding tongue ORPHA:1446
Cowden Syndrome 6
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula, Palmopl... OMIM:615109
Orofaciodigital Syndrome Type 6
High palate, Tongue nodules, Abnormal oral frenulum morphology, Failure to thrive, Midline notch ... ORPHA:2754
Cholesteryl Ester Storage Disease
Failure to thrive, Steatorrhea, Esophageal varix OMIM:278000
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligodontia, Exaggerated cupid's bow, Exaggerated median tongue furrow, High palate, Everted lowe... OMIM:608670
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Carey-Fineman-Ziter Syndrome 1
Gastroesophageal reflux, High palate, Glossoptosis, Growth delay, Failure to thrive, Cleft palate... OMIM:254940
Ritscher-Schinzel Syndrome 2
Postnatal growth retardation, Short philtrum, High palate, Protruding tongue, Intestinal malrotation OMIM:300963
Developmental And Epileptic Encephalopathy 31B
Choking episodes, Failure to thrive, Gingival overgrowth, Protruding tongue OMIM:620352
Fanconi Anemia, Complementation Group B
Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth retardation, Duo... OMIM:300514
Hypoglossia-Hypodactyly Syndrome
High palate, Narrow mouth, Anal atresia, Cleft palate, Hypodontia, Aplasia/Hypoplasia of the tong... ORPHA:989
Gracile Bone Dysplasia
Short stature, Failure to thrive, Ankyloglossia OMIM:602361
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue, Failure to thrive, Dysphagia OMIM:230600
Mirage Syndrome
Gastroesophageal reflux, Decreased body weight, Short stature, Intrauterine growth retardation, A... OMIM:617053
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Otospondylomegaepiphyseal Dysplasia
Disproportionate short stature, Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Multiple Epiphyseal Dysplasia, Lowry Type
Short stature, Cleft hard palate, Rhizomelia ORPHA:166016
Adams-Oliver Syndrome
Failure to thrive, Gastrointestinal hemorrhage, Esophageal varix ORPHA:974
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Orofaciodigital Syndrome Vi
High palate, Tongue nodules, Short stature, Incomplete cleft of the upper lip, Cleft upper lip, C... OMIM:277170
Maternal Phenylketonuria
Esophageal atresia, Hyperactivity, High palate, Long philtrum, Intrauterine growth retardation ORPHA:2209
Caroli Disease
Anorexia, Esophageal varix, Weight loss, Cholangiocarcinoma ORPHA:53035
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Down Syndrome
Narrow palate, Delayed puberty, Aganglionic megacolon, Thick lower lip vermilion, Gastroesophagea... ORPHA:870
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Tongue nodules, High palate, Talon cusp, Agenesis of centr... ORPHA:2751
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Protruding tongue, Motor stereotypy, Atte... OMIM:619580
Trisomy 18
Narrow palate, Esophageal atresia, Non-midline cleft of the upper lip, Cachexia, Narrow mouth, An... ORPHA:3380
Marshall-Smith Syndrome
Failure to thrive, Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Anorexia, Gastrointestinal hemorrhage, Dental crowding, Esophageal varix, High palate ORPHA:394
Acro-Renal-Mandibular Syndrome
Orofacial cleft, Short philtrum, High palate, Tracheoesophageal fistula, Intrauterine growth reta... ORPHA:958
Chronic Graft Versus Host Disease
Anorexia, Abnormal esophagus physiology, Gastroesophageal reflux, Abnormal esophagus morphology, ... ORPHA:99921
Rabson-Mendenhall Syndrome
Polydipsia, Advanced eruption of teeth, Severe postnatal growth retardation, Dental crowding, Gin... ORPHA:769
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Esophageal varix, High palate, Intestinal malrotation, Failure to thrive... OMIM:613658
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Neonatal death, Cleft palate, Natal tooth, Cleft lip, Hamartoma of tongue, Esophage... OMIM:617925
Myopathy, Myofibrillar, 7
Dysphagia, Tongue atrophy OMIM:617114
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Growth delay, Cleft palate, Attentio... OMIM:614083
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Gastroesophageal reflux, Protruding tongue OMIM:614325
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Ectopic anus, Bifid uvula, Cleft pa... ORPHA:87
Kinsship Syndrome
Thick lower lip vermilion, Widely spaced teeth, Short philtrum, Gastroesophageal reflux, Gingival... OMIM:619297
Progeroid Short Stature With Pigmented Nevi
Delayed puberty, Irregular dentition, Short stature, Esophageal ulceration, Hypodontia, Small for... OMIM:176690
Basel-Vanagaite-Smirin-Yosef Syndrome
Gastroesophageal reflux, Short philtrum, High palate, Everted lower lip vermilion, Furrowed tongu... OMIM:616449
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Rhizomelia, Anal atresia, Incomplete cleft of the upper lip, Cleft palate, Lobulated ... OMIM:616300
Immunodeficiency 23
Failure to thrive, High palate, Esophageal stricture OMIM:615816
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Palmoplantar hyperkeratosis, Open bite, Gingival bleed... ORPHA:2907
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Bifid uvula, Narrow mouth, Cleft palate ORPHA:1790
Icf Syndrome
Short stature, Macroglossia, Protruding tongue ORPHA:2268
Moebius Syndrome
High palate, Everted lower lip vermilion, Microdontia, Tooth agenesis, Cleft palate, Dysphagia, O... ORPHA:570
Cerebrocostomandibular Syndrome
Postnatal growth retardation, Anal stenosis, Cleft soft palate, Gastroesophageal reflux, Short ha... OMIM:117650
Orofaciodigital Syndrome I
Supernumerary tooth, High palate, Tongue nodules, Ankyloglossia, Agenesis of permanent teeth, Sho... OMIM:311200
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dysphagia, Weight loss, Acantholysis, Esophageal stricture ORPHA:36426
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Narrow mouth, Compulsive behaviors, Ankyloglossia, Intrauterine growth retar... ORPHA:261330
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Protruding tongue ORPHA:53351
Kleefstra Syndrome Due To 9Q34 Microdeletion
Everted lower lip vermilion, Protruding tongue, Growth delay, Failure to thrive, Downturned corne... ORPHA:96147
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Intestinal malrotation, Cleft upper lip, Short stature, Cleft palate, Hamartoma of ... OMIM:613091
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Delayed eruption of teeth, Abnormal dental enamel morph... ORPHA:1452
Hardikar Syndrome
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... OMIM:301068
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Thick lower lip vermilion, Gastroesophageal reflux, Protruding tong... OMIM:301040
Cowden Syndrome 1
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula, Palmopl... OMIM:158350
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Everted lower lip vermilion, Microdontia, Wide mouth, Dysphagia, Long philtrum, In... OMIM:615873
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hyperkeratosis, Furrowed tongue, Microdontia, Oral leukoplakia OMIM:148210
Dyskeratosis Congenita, Autosomal Dominant 3
Gastrointestinal hemorrhage, Short stature, Growth delay, Oral leukoplakia, Intrauterine growth r... OMIM:613990
Imerslund-Gräsbeck Syndrome
Glossitis, Failure to thrive, Weight loss, Angular cheilitis ORPHA:35858
Neurodevelopmental Disorder With Variable Motor And Language Impairment
High palate, Everted lower lip vermilion, Stereotypical hand wringing, Protruding tongue, Smooth ... OMIM:617804
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Distal Deletion 15Q
Postnatal growth retardation, Short philtrum, Abnormality of the dentition, Intrauterine growth r... ORPHA:1596
Treacher-Collins Syndrome
Rectovaginal fistula, Abnormal dental enamel morphology, Open bite, High palate, Glossoptosis, Tr... ORPHA:861
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Delayed puberty, Anal fissure, Gastroesophageal reflux, Narrow mou... ORPHA:79408
Senior-Boichis Syndrome
Polydipsia, Agitation, Esophageal varix, Attention deficit hyperactivity disorder, Aggressive beh... ORPHA:84081
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Glossoptosis ORPHA:2031
Fryns Syndrome
Stillbirth, Large for gestational age, Aganglionic megacolon, Esophageal atresia, Meckel divertic... OMIM:229850
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix, Neonatal death OMIM:263200
Cirrhosis, Familial
Esophageal varix OMIM:215600
1Q21.1 Microdeletion Syndrome
High palate, Ankyloglossia, Attention deficit hyperactivity disorder, Failure to thrive, Short st... ORPHA:250989
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Dysphagia, Tongue atrophy OMIM:211530
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Narrow mouth, Protruding tongue, Short stature, Failure to thrive, Growt... OMIM:608779
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Dental malocclusion, Gingival overgrowth, Short stature, Downturned corners of ... OMIM:616894
Juvenile Sialidosis Type 2
Gingival overgrowth, Dysphagia, Protruding tongue ORPHA:93399
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Ectopic anus, Rhizomelic arm shorte... OMIM:101200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Microdontia, Impulsivity, Eclabion, Wide mouth, Bruxism, Agitation, Short philtrum, Short stature... OMIM:619950
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Tarp Syndrome
Glossoptosis, Failure to thrive, Cleft palate, Pierre-Robin sequence, Abnormal duodenum morpholog... ORPHA:2886
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Severe periodontitis, Small for gestational age, Premature loss of teeth, Long upp... ORPHA:99843
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Intestinal pseudo-obstruction, Bruxism, Abnormality of primary teeth, Open b... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Intestinal pseudo-obstruction, Bruxism, Abnormality of primary teeth, Open b... ORPHA:352665
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Abse... OMIM:250250
Au-Kline Syndrome
Gastroesophageal reflux, Oligodontia, High palate, Failure to thrive, Downturned corners of mouth... OMIM:616580
Autosomal Recessive Robinow Syndrome
Abnormal palate morphology, Orofacial cleft, Supernumerary tooth, Short philtrum, Disproportionat... ORPHA:1507
Raine Syndrome
Gingival overgrowth, High palate, Narrow mouth, Microdontia, Protruding tongue, Short stature, En... OMIM:259775
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis, Overweight, Obesity ORPHA:247353
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbite, Short phil... OMIM:620450
Mucoepithelial Dysplasia, Hereditary
Melena, Furrowed tongue, Follicular hyperkeratosis, Erythematous oral mucosa OMIM:158310
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short ... ORPHA:2839
Giant Cell Arteritis
Glossitis, Gastrointestinal infarctions, Anorexia, Weight loss ORPHA:397
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Protruding tongue OMIM:618797
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Short philtrum, Exaggerated cupid's bow, Furrowed tongue, Everted lower lip ... ORPHA:464738
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis ORPHA:436003
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Cowden Syndrome
Generalized hyperkeratosis, Colorectal polyposis, High palate, Furrowed tongue, Hamartomatous pol... ORPHA:201
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Growth delay, Enamel hypoplasia, Failure to thrive, Palmoplantar keratoderma, Oral... ORPHA:79396
Robinow Syndrome
Orofacial cleft, Triangular mouth, Tooth malposition, Hypodontia, Dental crowding, Broad alveolar... ORPHA:97360
Arima Syndrome
Polydipsia, Esophageal varix, Wide mouth, Growth delay OMIM:243910
Feingold Syndrome 1
Gastrointestinal atresia, Esophageal atresia, High palate, Everted lower lip vermilion, Tracheoes... OMIM:164280
Short-Rib Thoracic Dysplasia 12
Median cleft palate, Intestinal malrotation, Neonatal death, Lobulated tongue, Natal tooth, Intra... OMIM:269860
Gabriele-De Vries Syndrome
Thick lower lip vermilion, Esophageal atresia, Oral-pharyngeal dysphagia, High palate, Abnormalit... ORPHA:506358
Lysosomal Acid Lipase Deficiency
Steatorrhea, Cachexia, Esophageal varix, Failure to thrive, Weight loss ORPHA:275761
Feingold Syndrome Type 1
Gastrointestinal atresia, Esophageal atresia, Anal atresia, Short stature, Jejunal atresia, Duode... ORPHA:391641
Opitz Gbbb Syndrome
Hypodontia, Ectopic anus, High palate, Anal atresia, Tracheoesophageal fistula, Ankyloglossia, Sh... ORPHA:2745
Chand Syndrome
Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala... ORPHA:1401
Orofaciodigital Syndrome Type 1
Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High palate, Tongue nodules,... ORPHA:2750
Okur-Chung Neurodevelopmental Syndrome
High palate, Recurrent hand flapping, Frequent temper tantrums, Protruding tongue, Failure to thr... OMIM:617062
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Microglossia ORPHA:990
Cerebrocostomandibular Syndrome
Short hard palate, Glossoptosis, Short stature, Cleft palate, Intrauterine growth retardation ORPHA:1393
Smith-Lemli-Opitz Syndrome
Supernumerary tooth, Advanced eruption of teeth, Aganglionic megacolon, Rhizomelia, Gastroesophag... ORPHA:818
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Aphthous ulcer, Agitation, Esophageal varix, Oral ulcer OMIM:615688
Pachyonychia Congenita
Advanced eruption of teeth, Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in ... ORPHA:2309
Catel-Manzke Syndrome
Postnatal growth retardation, High palate, Glossoptosis, Narrow mouth, Cleft upper lip, Pierre-Ro... OMIM:616145
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Tracheoesophageal fistula, Short stature, Attention deficit hyperactivity dis... OMIM:227646
Spondyloepiphyseal Dysplasia Congenita
Disproportionate short-trunk short stature, Cleft palate, Glossoptosis, Growth delay ORPHA:94068
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Gastroesophageal reflux, Decreased body weight, Protruding tongue, Dysphagia, Open mouth, Macrogl... ORPHA:258
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anal atresia, Esophageal atresia, Tracheoesophageal fistula ORPHA:3412
Otopalatodigital Syndrome Type 2
Oligodontia, Glossoptosis, Narrow mouth, Failure to thrive, Pierre-Robin sequence, Cleft palate, ... ORPHA:90652
Glucagonoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Glossitis, Stomatitis... ORPHA:97280
Primary Biliary Cholangitis
Gastrointestinal inflammation, Steatorrhea, Esophageal varix, Hepatocellular carcinoma, Celiac di... ORPHA:186
Joubert Syndrome 1
Hyperactivity, Protruding tongue, Triangular-shaped open mouth, Macroglossia, Self-mutilation, Ag... OMIM:213300
Robinow Syndrome, Autosomal Recessive 1
Narrow palate, Orofacial cleft, Short philtrum, Triangular mouth, Dental crowding, Gingival overg... OMIM:268310
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Glossoptosis, Abnormality of the dentition, Narrow mout... ORPHA:2108
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Broad alveolar ridges, High palate, Furrowed tongue, Short stature, Smoo... OMIM:616975
Marshall-Smith Syndrome
Short mandibular rami, Short philtrum, Gingival overgrowth, Glossoptosis, High palate, Microdonti... OMIM:602535
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Orofacial cleft, Rhizomelia, Triangular mouth, Delayed eruption of teeth, Short ha... OMIM:180700
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Gastrointestinal hemorrhage, Protein-losing enteropathy, Esophageal varix, Growth del... ORPHA:731
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, High palate, Protruding tongue, Failure to thrive, Dysphagia, Macroglossia OMIM:214100
Developmental And Epileptic Encephalopathy 100
Gastroesophageal reflux, Gingival overgrowth, High palate, Microdontia, Protruding tongue, Enamel... OMIM:619777
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Abnormal temper tantrums, Cachexia, Esophageal varix, Growth delay, Gastric ulcer ORPHA:2072
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Delayed eruption of teeth, Bruxism, Dental crowding, Esophageal varix, High pa... OMIM:619503
Autosomal Dominant Robinow Syndrome
Supernumerary tooth, High, narrow palate, Short philtrum, Hypodontia, Oligodontia, Open bite, Gin... ORPHA:3107
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Tongue atrophy ORPHA:101085
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Hyperactivity, Impulsivity, Broad philtrum, Intrauterine growth retardation, Bru... OMIM:619475
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Failure to thrive, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Stickler Syndrome
Advanced eruption of teeth, Gastroesophageal reflux, Short hard palate, Abnormal dental enamel mo... ORPHA:828
Stuve-Wiedemann Syndrome 1
Thin vermilion border, Smooth tongue, Short stature, Carious teeth, Dysphagia, Intrauterine growt... OMIM:601559
Frontorhiny
Cleft palate, Bifid tongue ORPHA:391474
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, Tracheoesophageal ... OMIM:265380
Pallister-Hall Syndrome
Anal atresia, Short stature, Cleft upper lip, Growth delay, Neonatal death, Cleft palate, Natal t... OMIM:146510
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Short stature, Enamel hypoplasia, Failure to thrive, Cleft palate, ... OMIM:151050
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Vater/Vacterl Association
Postnatal growth retardation, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Failur... OMIM:192350
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, Gastroesophageal reflux, Hyperactivity, High palate, Short upper lip, ... OMIM:309580
Microphthalmia, Syndromic 3
Short stature, Postnatal growth retardation, Esophageal atresia OMIM:206900
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glossitis, Stomatitis, Growth delay, Failure to thrive, Smooth philtrum, Intrauterine growth reta... ORPHA:79282
Caroli Syndrome
Hematemesis, Esophageal varix, Melena, Cholangiocarcinoma ORPHA:480520
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Short stature, Bifid... OMIM:300990
Dyskeratosis Congenita, X-Linked
Premature loss of teeth, Short stature, Carious teeth, Oral leukoplakia, Intrauterine growth reta... OMIM:305000
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Erosion of oral mucosa, Growth delay, Enamel hypoplasia, Abnormal ... ORPHA:79404
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Stillbirth, Protruding tongue OMIM:200600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Plantar hyperkeratosis, Oral leukoplakia OMIM:615735
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Hyperactivity, Broad alveolar ridges, Dental crow... OMIM:270400
Congenital Tracheomalacia
Gastroesophageal reflux, Failure to thrive, Esophageal atresia, Tracheoesophageal fistula ORPHA:95430
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Short stature, Downturned corners of mouth, Cleft palate, Intrauterine growth reta... ORPHA:488642
Cousin Syndrome
Rhizomelia, Cleft palate, Microglossia, Disproportionate short stature, Alveolar ridge overgrowth OMIM:260660
Yunis-Varon Syndrome
Postnatal growth retardation, Thin vermilion border, High, narrow palate, Severe failure to thriv... ORPHA:3472
Fontaine Progeroid Syndrome
High, narrow palate, Gastroesophageal reflux, Small for gestational age, Oligodontia, Narrow mout... OMIM:612289
Agel Amyloidosis
Xerostomia, Tongue atrophy ORPHA:85448
Wilson Disease
Esophageal varix, Hepatocellular carcinoma, Dysphagia OMIM:277900
Bilateral Perisylvian Polymicrogyria
Gastroesophageal reflux, Protruding tongue, Dysphagia, Intrauterine growth retardation, Pseudobul... ORPHA:98889
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, High palate, Glossoptosis, Short stature, Downturned corners of mouth, O... ORPHA:444077
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Cleft palate, Microglossia, Hamartoma of tongue, Median cleft upper lip OMIM:263520
Degcags Syndrome
Oral-pharyngeal dysphagia, Gastroesophageal reflux, High palate, Intrauterine growth retardation,... OMIM:619488
Choreoacanthocytosis
Self-injurious behavior, Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-bangi... ORPHA:2388
Okamoto Syndrome
Anal stenosis, Gastroesophageal reflux, Severe postnatal growth retardation, Open bite, Exaggerat... ORPHA:2729
Meckel Syndrome, Type 1
Anal atresia, Intestinal malrotation, Cleft upper lip, Cleft palate, Lobulated tongue, Wide mouth... OMIM:249000
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Protruding tongue, Natal tooth, Long philtrum ORPHA:50945
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Disproportionate short-limb short stature, Ectopic anus, Anal atresia, Cleft ... ORPHA:93271
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Abnormal tongue morphology, Thick vermilion border, N... ORPHA:653
Microsporidiosis
Glossitis, Cachexia, Anorexia, Weight loss ORPHA:2552
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Aplasia of the epiglottis, Cleft palate, Lobulated tongue, Natal tooth, Clef... OMIM:615948
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Gastrointestinal arteri... ORPHA:774
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Aplasia of the epiglottis, Cleft palate, Lobulated tongue, Accessory oral fr... ORPHA:434179
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Anal stenosis, Esophageal atresia, Tracheoesophage... OMIM:214800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Gastroesophageal reflux, Ankyloglossia, Short stature, Carious teeth, Downturned corners of mouth... OMIM:620186
Down Syndrome
Aganglionic megacolon, Anal atresia, Protruding tongue, Short stature, Duodenal stenosis, Macrogl... OMIM:190685
Limb-Mammary Syndrome
Cleft hard palate, Bifid uvula, Submucous cleft soft palate, Cleft palate, Hypodontia, Cleft lip ORPHA:69085
Chilton-Okur-Chung Neurodevelopmental Syndrome
Agenesis of incisor, Widely spaced teeth, Short philtrum, Intrauterine growth retardation, Ankylo... OMIM:619841
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Esophageal varix, Everted lower lip vermilion, Short stature, Failure to... OMIM:619534
Plague
Hematemesis, Anorexia, Glossitis, Inflammation of the large intestine, Enterocolitis, Ileitis, Ch... ORPHA:707
Neuroocular Syndrome
Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Short stature, Downturned co... OMIM:619539
Fraser Syndrome
Orofacial cleft, Anal stenosis, Anorectal anomaly, Dental crowding, Ectopic anus, High palate, An... ORPHA:2052
Stüve-Wiedemann Syndrome
Smooth tongue, Abnormality of the dentition, Intrauterine growth retardation, Short stature ORPHA:3206
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Hutchinson-Gilford Progeria Syndrome
Thin vermilion border, Severe failure to thrive, Delayed eruption of teeth, Dental crowding, Shor... ORPHA:740
Kawasaki Disease
Glossitis, Cheilitis, Strawberry tongue, Lip fissure ORPHA:2331
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue ORPHA:564
Carney Complex
Esophageal neoplasm, Neoplasm of the stomach, Abnormal hard palate morphology, Neoplasm of the re... ORPHA:1359
Pallister-Hall Syndrome
Large for gestational age, Anal atresia, Cleft lip, Short stature, Bifid uvula, Natal tooth, Clef... ORPHA:672
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia, Failure to thrive, Gastroesophageal reflux OMIM:619525
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Meckel diverticulum, Gingival overgrowth, Exaggerated median tongue furrow, Anal a... OMIM:312870
Microphthalmia, Syndromic 6
High palate, Failure to thrive, Bifid uvula, Cleft palate, Microglossia OMIM:607932
Alström Syndrome
Gastroesophageal reflux, Abnormality of dental color, Esophageal varix, Delayed menarche, Gingivi... ORPHA:64
Pachyonychia Congenita 4
Palmoplantar keratoderma OMIM:615728

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 Krt6a

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 Krt6a.

No publications found that use IMPC mice or data for Krt6a.

Order Mouse and ES Cells

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