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Gene: Krt6a MGI:1100845

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

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pachyonychia Congenita 3
Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Follicular hyperkeratos... OMIM:615726
Pachyonychia Congenita
Natal tooth, Failure to thrive, Oral leukoplakia, Palmoplantar keratoderma, Linear arrays of macu... ORPHA:2309
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Oral leukoplakia OMIM:615735
Pachyonychia Congenita 4
Palmoplantar keratoderma OMIM:615728

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

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