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Gene: Krt4 MGI:96701

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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 4
Synonyms:
Krt2-4,  K4,  Krt-2.4

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 Krt4 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 Krt4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
White Sponge Nevus 1
Oral leukoplakia OMIM:193900

The table below shows human diseases predicted to be associated to Krt4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive
Ridged nail, Onychogryposis, Oral mucosal blisters OMIM:601001
Blistering, Acantholytic, Of Oral And Laryngeal Mucosa
Erosion of oral mucosa, Oral mucosal blisters OMIM:619226
Hereditary Gingival Fibromatosis
Gingival fibromatosis, Gingival overgrowth ORPHA:2024
Book Syndrome
Premature graying of hair, Hypodontia OMIM:112300
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Periodontitis, Aggressive, 1
Premature loss of teeth, Severe periodontitis, Gingival recession OMIM:170650
White Sponge Nevus 1
Oral leukoplakia OMIM:193900
Pachyonychia Congenita 1
Nail dystrophy, Oral leukoplakia, Onychogryposis OMIM:167200
Acatalasemia
Oral ulcer OMIM:614097
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy, Oral leukoplakia, Squamous cell carcinoma of th... OMIM:613988
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Dyskeratosis, Hereditary Benign Intraepithelial
Oral leukoplakia OMIM:127600
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Oral leukoplakia OMIM:615735
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Pachyonychia Congenita 2
Natal tooth, Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eye... OMIM:167210
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Premature... OMIM:616353
Tylosis With Esophageal Cancer
Esophageal carcinoma, Oral leukoplakia OMIM:148500
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Hyperconvex nail, Cleft palate OMIM:311895
Periodontal Ehlers-Danlos Syndrome
Hypermelanotic macule, Premature loss of primary teeth, Gingival overgrowth, Agenesis of permanen... ORPHA:75392
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... ORPHA:2222
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Dyskeratosis Congenita, Autosomal Dominant 6
Intrauterine growth retardation, Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition OMIM:616553
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Premature graying of hair, Nail dystrophy, Oral leukoplakia, Reticular hyperpigmentation OMIM:619767
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Pachyonychia Congenita 3
Chapped lip, Onychogryposis of toenails, Gingivitis, Furrowed tongue, Nail dystrophy, Oral leukop... OMIM:615726
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract OMIM:300719
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Melanoc... ORPHA:1008
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Dyskeratosis Congenita, Autosomal Recessive 2
Reticulated skin pigmentation, Nail dystrophy, Oral leukoplakia OMIM:613987
Pachyonychia Congenita
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp... ORPHA:2309
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Bone Marrow Failure Syndrome 5
Growth delay, Short stature, Oral leukoplakia OMIM:618165
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Furrowed tongue, Nail dystrophy,... OMIM:148210
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Sparse eyelashes, Carious teeth, Esophageal stricture, Pterygium of nails, Ret... OMIM:224230
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis, Oral ulcer OMIM:618287
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Reticulated skin pigmentation, Esophageal stricture, Premature gray... OMIM:613989
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... ORPHA:2026
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Abnormal oral cavity morphology, Narrow ... ORPHA:1355
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... OMIM:620133
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Hereditary Acrokeratotic Poikiloderma
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomia, Hypopigment... ORPHA:2907
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Cheilitis, Leukonychia, Onycholysis, Oral leukoplakia OMIM:616295
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... OMIM:141300
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Oral leuko... OMIM:268130
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Carious teeth, Nail pits, Reticular hyperpigmentation, Premature graying o... OMIM:127550
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Abnormal fingernail morphology, Gingival overgrowth, Gingival hyperkera... ORPHA:2200
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Erosion of oral mucosa, Recurrent loss of toenails and fingernails, Oral mucosal blisters, Nail d... ORPHA:231568
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... ORPHA:2025
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Nail dysplasia, Or... OMIM:613990
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Hartnup Disorder
Glossitis, Short stature OMIM:234500
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormality of the dentition, Abnormality of skin pigmentation, Nail ... OMIM:620040
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Abnormal fingernail morphology, Hyper... ORPHA:1775
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... OMIM:601706
Kindler Syndrome
Ridged nail, Anal stenosis, Esophageal stenosis, Carious teeth, Spotty hypopigmentation, Gingivit... OMIM:173650
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Cataract OMIM:614876
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Short stature, Cleft palate ORPHA:1388
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Cataract, Oral mucosal blisters, Narrow mouth, Esophageal str... OMIM:226600
Chromosome 4Q21 Deletion Syndrome
Severe short stature, Postnatal growth retardation, Downturned corners of mouth, Short philtrum, ... OMIM:613509
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Cronkhite-Canada Syndrome
Intestinal polyposis, Generalized hyperpigmentation, Cataract, Malabsorption, Hypogeusia, Furrowe... ORPHA:2930
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Intestinal bleeding, Nail dystrophy, Nail dysplasia, Sparse... OMIM:612199
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Thick upper lip vermilion, Thick lower lip vermilion, Wide mouth OMIM:309545
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... ORPHA:2221
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy, Anorectal anomaly, Gingival overgrowth, Tracheoesophageal fistula, F... ORPHA:1839
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Reynolds Syndrome
Abnormal gastric mucosa morphology, Xerostomia, Keratoconjunctivitis sicca, Gastroesophageal refl... ORPHA:779
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Alopecia ... ORPHA:530
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Lelis Syndrome
Carious teeth, Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Furrowed tongue,... ORPHA:140936
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Temporal hypotrichosis, Bif... ORPHA:3241
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili... OMIM:301845
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Dermatopathia Pigmentosa Reticularis
Reticulate pigmentation of oral mucosa, Alopecia of scalp, Nail dystrophy, Reticular hyperpigment... OMIM:125595
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... ORPHA:3214
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Furrowed tongue ORPHA:2743
Plummer-Vinson Syndrome
Tongue atrophy, Concave nail, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mou... ORPHA:54028
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... ORPHA:83450
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Hyperpigmentation of the skin, Sparse eyelashes, Carious teeth... OMIM:305000
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... ORPHA:897
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Piebaldism
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... ORPHA:2884
Piebald Trait
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... OMIM:172800
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophageal stricture, Corneal ero... ORPHA:89842
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
9q subtelomeric deletion syndrome
Synophrys, Protruding tongue DECIPHER:52
Waardenburg Syndrome, Type 4A
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Tented upper lip vermilion, Aganglionic megacolon, White eyelashes, Whi... ORPHA:894
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Furrowed tongue ORPHA:2928
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding, Albinism OMIM:614072
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Cataract-Intellectual Disability-Hypogonadism Syndrome
Furrowed tongue, Low posterior hairline, Everted lower lip vermilion, High palate, Short philtrum... ORPHA:1387
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Short stature, Pierre-Robin sequence, Growth delay, Glossoptosis, High ... OMIM:613604
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Orofaciodigital Syndrome Iii
Hyperconvex nail, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Aphthous ulcer, Ulcerative colitis, Growth delay, Inflammation of the lar... OMIM:266600
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p... OMIM:257980
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum, Peters anomaly OMIM:614526
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia OMIM:277720
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Seckel Syndrome 2
Growth delay, Microdontia, Microglossia, Short stature OMIM:606744
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Familial Mediterranean Fever
Intestinal obstruction, Oral leukoplakia, Malabsorption ORPHA:342
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... ORPHA:659
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Corneal erosion, Gastrointestinal inf... ORPHA:79409
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Short stature, Cleft palate OMIM:620269
Mulibrey Nanism
Dental crowding, Corneal dystrophy, Dental malocclusion, Pigmentary retinopathy, Astigmatism, Hyp... OMIM:253250
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Intestinal obstruction, Hypopigmentation of hair, Agan... ORPHA:3440
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Cataract, Hypoperistalsis, Esophageal neoplasm, Keratitis, Abnormal esophagu... ORPHA:1018
Orofaciodigital Syndrome Iv
Short stature, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High... OMIM:258860
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Mandibulofacial Dysostosis With Alopecia
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Cleft palate, Glo... OMIM:616367
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Narrow mouth OMIM:227270
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia, Hypopigm... ORPHA:98795
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Enamel hypoplasia, Axillar... OMIM:226730
Mismatch Repair Cancer Syndrome 3
Axillary freckling, Neoplasm of the rectum, Colon cancer, Lisch nodules, Multiple cafe-au-lait spots OMIM:619097
Hartnup Disease
Malabsorption, Hypopigmented skin patches, Gingivitis, Irregular hyperpigmentation, Glossitis ORPHA:2116
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Premature graying of hair, Esophageal varix OMIM:617341
Pontocerebellar Hypoplasia, Type 1B
Growth delay, Tongue atrophy, Tongue fasciculations OMIM:614678
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Abnormal stomach morphology ORPHA:281090
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posterior hairline,... OMIM:620107
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum OMIM:613443
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Cholesteryl Ester Storage Disease
Esophageal varix ORPHA:75234
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Tetraamelia Syndrome 2
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormal oral mucosa morphology, Abnormality of the nail ORPHA:254478
Terminal Osseous Dysplasia
Accessory oral frenulum, Cleft palate, Abnormality of skin pigmentation, Thick vermilion border, ... OMIM:300244
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Premature loss of primary teeth, Abnormality of the dentition, Abnorm... ORPHA:1810
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Hypodontia, Dysphagia, Enamel hypoplasia OMIM:616029
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mouth ORPHA:531151
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Joubert Syndrome 18
Intrauterine growth retardation, Lobulated tongue, Cleft palate OMIM:614815
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Paronychia, Cheilitis, Abnorma... ORPHA:37
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Iris coloboma, Tracheoesophageal fistula, Sclerocornea ORPHA:77298
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia, Hypopigm... ORPHA:411511
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Microglossia, Narrow mouth ORPHA:1972
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Abnormality of skin pigm... ORPHA:1806
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Cataract OMIM:251270
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Wide mouth, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Craniolenticulosutural Dysplasia
Smooth philtrum, Delayed eruption of teeth, Carious teeth, Hypoplasia of teeth, Abnormality of sk... ORPHA:50814
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and palate, Alope... OMIM:618874
Carey-Fineman-Ziter Syndrome
Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Growth dela... ORPHA:1358
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Kindler Epidermolysis Bullosa
Corneal opacity, Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teet... ORPHA:2908
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, Abnormality of skin p... ORPHA:2457
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... OMIM:174300
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Short stature, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth OMIM:615065
Psoriasis 14, Pustular
Geographic tongue, Nail dystrophy, Furrowed tongue OMIM:614204
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Thick vermilion border, Abnormal esophagus morphology, D... OMIM:613706
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Abnormal dental morphology, Slow-growing hair, Abnormality of the dentiti... ORPHA:238468
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... ORPHA:2752
Holzgreve Syndrome
Intrauterine growth retardation, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Obesity And Hypopigmentation
Red hair OMIM:620195
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanocytes, Astigmatism, Freckl... ORPHA:54
Aspergillosis
Keratitis, Abnormal esophagus morphology ORPHA:1163
Paraneoplastic Pemphigus
Oral ulcer, Oral mucosal blisters ORPHA:63455
Darier Disease
Abnormality of skin pigmentation, Hypermelanotic macule, Anal mucosal leukoplakia ORPHA:218
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Low anterior hairline, Gingival overgrowth, Wide mouth, Horizontal eyebrow, Hi... OMIM:618797
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma OMIM:619463
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Short stature, Cleft palate OMIM:241800
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Gastroesophageal reflux, Hypopigmented skin patches, Dysphagia ORPHA:220402
X-Linked Agammaglobulinemia
Glossoptosis, Conjunctivitis, Hypopigmented skin patches, Malabsorption ORPHA:47
Wolman Disease
Esophageal varix, Steatorrhea ORPHA:75233
Down Syndrome
Cataract, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip... ORPHA:870
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Esophageal stenosis, Downturned corners of mouth, Anisocoria, Short philtrum, Dysphagia, Achalasia OMIM:615510
Intellectual Developmental Disorder, Autosomal Dominant 58
Short stature, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High ... OMIM:618106
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Corneal opacity, Abnormality of canine, Pier... ORPHA:364577
Moebius Syndrome
Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Eve... ORPHA:570
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Mohr Syndrome
Median cleft lip, Short stature, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated... OMIM:252100
Cowden Syndrome 5
Colonic diverticula, Cataract, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615108
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Abnormality of skin pigmenta... ORPHA:79411
Mucoepithelial Dysplasia, Hereditary
Alopecia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, Nail dysplasia,... OMIM:158310
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Rhizomelia, Cleft palate ORPHA:440354
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... ORPHA:131
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Trisomy 8Q
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... ORPHA:1752
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Cohen Syndrome
Abnormality of retinal pigmentation, Macrodontia, Aplasia/Hypoplasia of the tongue, Thick hair, A... ORPHA:193
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cataract, Cleft palate, Furrowed tongue, Microcornea, Gastroesophagea... OMIM:616449
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Carney Complex, Type 1
Palatine myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Angelman Syndrome
Protruding tongue, Blue irides, Wide mouth, Macroglossia, Widely spaced teeth, Fair hair, Hypopig... OMIM:105830
Distal Limb Deficiencies-Micrognathia Syndrome
Short stature, Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia ORPHA:1307
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin ve... OMIM:212066
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Rhizomelia, Short stature, Postnatal growth retardation, Pierre-Robin s... OMIM:611209
Chand Syndrome
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... ORPHA:1401
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Intrauterine g... OMIM:612938
Cowden Syndrome 6
Colonic diverticula, Cataract, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615109
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue ORPHA:2759
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Glycogen Storage Disease Iv
Esophageal varix OMIM:232500
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Narrow palate ORPHA:313892
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Cleft palate, Narrow mouth OMIM:202650
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Dysphagia ORPHA:93399
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia, Hypopigm... ORPHA:98794
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Glossitis ORPHA:79284
Classic Homocystinuria
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Cataract, Dental crowding, Ecto... ORPHA:394
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Cafe-au-lait spot, Du... OMIM:619227
Gardner Syndrome
Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dentition, Supernumerary tooth... ORPHA:79665
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Orofaciodigital Syndrome I
Dry hair, Median cleft lip, Alopecia, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supern... OMIM:311200
Muenke Syndrome
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
3Q29 Microdeletion Syndrome
Cataract, Dental crowding, Abnormality of the dentition, Orofacial cleft, Abnormality of skin pig... ORPHA:65286
Icf Syndrome
Macroglossia, Malabsorption, Short stature, Protruding tongue ORPHA:2268
Rabson-Mendenhall Syndrome
Dental crowding, Thick hair, Abnormality of the dentition, Onychauxis, Low anterior hairline, Gin... ORPHA:769
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Corneal op... OMIM:608670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Short stature, Protruding tongue OMIM:242860
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Generalized hirsutism, Protruding tongue ORPHA:561
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Oral mucosal blisters, Depigmentation/hyperpigmentation of skin, Generalized ret... ORPHA:79396
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Keratitis, Xerostomia, Nasolacrimal duct obstruction, Smoot... ORPHA:1051
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Abnormal fingernail morphology, Cleft palate, ... ORPHA:989
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Cataract, Dysphagia OMIM:612379
Williams Syndrome
Rectal prolapse, Gastroesophageal reflux, Microdontia, Megalocornea, Abnormal dental morphology, ... ORPHA:904
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mouth, Anal atresia ORPHA:59315
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intrauterine growth reta... OMIM:311900
Orofaciodigital Syndrome Type 1
Alopecia, Median cleft lip, Brittle hair, Abnormal dental enamel morphology, Accessory oral frenu... ORPHA:2750
Apert Syndrome
Delayed eruption of teeth, Esophageal atresia, Corneal erosion, Cleft palate, Narrow palate, Ecto... ORPHA:87
Angelman Syndrome
Abnormality of the gastrointestinal tract, Keratoconus, Protruding tongue, Wide mouth, Astigmatis... ORPHA:72
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Sparse hair, Microdontia, Periorbit... OMIM:305100
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations OMIM:614153
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613266
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, High, narr... ORPHA:2108
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cataract, Esophageal varix ORPHA:974
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Enamel hypoplasia OMIM:614576
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Hyperpigmentation of the skin, Dysphagia OMIM:606764
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia OMIM:615272
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Growth delay, Wide mouth, High palate, Long philtr... OMIM:618580
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Short stature, Gingival overgrowth, Protruding tongue OMIM:619179
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Orofaciodigital Syndrome Type 6
Short stature, Hamartoma of tongue, Cleft palate, Midline notch of upper alveolar ridge, Growth d... ORPHA:2754
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Postnatal growth retardation, High palate, Short philtrum OMIM:300963
Agel Amyloidosis
Tongue atrophy, Cataract, Xerostomia, Keratoconjunctivitis sicca, Lattice corneal dystrophy, Corn... ORPHA:85448
Cowden Syndrome 1
Colonic diverticula, Cataract, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:158350
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Synophrys, Widow's peak, Everted lower lip vermilion, High palate, Thin eyebro... OMIM:617804
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Unilateral alveolar cleft of maxi... ORPHA:2751
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Short stature, Tracheoesophageal fistula, High palate, Stomatitis, Glos... OMIM:277380
Immunodeficiency 12
Esophageal stricture, Recurrent aphthous stomatitis, Cheilitis OMIM:615468
Chronic Graft Versus Host Disease
Esophageal stricture, Xerostomia, Abnormality of skin pigmentation, Abnormal esophagus morphology... ORPHA:99921
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations ORPHA:276198
Cleidocranial Dysplasia
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... ORPHA:1452
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the up... OMIM:616300
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Thick eyebrow, Diastema, Furrowed tongue, Patchy alopecia, High palate,... OMIM:300534
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Developmental cataract ORPHA:93400
Treacher-Collins Syndrome
Cataract, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bi... ORPHA:861
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Autosomal Recessive Robinow Syndrome
Alopecia, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open... ORPHA:1507
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Esophageal atresia, Non-midline cleft lip, Narrow ... ORPHA:3380
Ring Chromosome 22 Syndrome
Growth delay, Thick vermilion border, Protruding tongue ORPHA:1446
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Synophrys, Macroglossia, Everted lo... OMIM:610253
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia of the eyebrow, Narrow mouth ORPHA:990
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Short stature ORPHA:2031
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Cataract, Developmental glaucoma, Buphthalmos, Difficulty in tongue movements ORPHA:99956
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Gastritis OMIM:618108
Robinow Syndrome, Autosomal Dominant 3
Short stature, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of per... OMIM:616894
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Feingold Syndrome
Esophageal atresia, Orofacial cleft, Duodenal atresia ORPHA:1305
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Disproportionate short stature, Bifid uvula, Cleft palate ORPHA:1427
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... ORPHA:958
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Synophrys, Narrow palate, High palate, Thick vermilion... OMIM:616078
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Orofaciodigital Syndrome Vi
Short stature, Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incom... OMIM:277170
Vacterl With Hydrocephalus
Microcornea, Esophageal atresia, Tracheoesophageal fistula, Anal atresia ORPHA:3412
Coach Syndrome 1
Wide mouth, Esophageal varix OMIM:216360
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth ORPHA:1790
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Raine Syndrome
Natal tooth, Short stature, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, Hig... OMIM:259775
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Cataract, Allergic conjunctivitis, Hypodontia, Esophageal ulceration OMIM:176690
Frontorhiny
Bifid tongue, Iris coloboma, Cleft palate, Cataract ORPHA:391474
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, High palate, Abnormal dental enamel morphology ORPHA:2180
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of the dentition, Abnorm... ORPHA:96169
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Cirrhosis, Familial
Esophageal varix OMIM:215600
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Iris coloboma, Cleft palate ORPHA:436003
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Open bite, Deep philtrum, Widow's peak, Wide mouth, Coarse ha... ORPHA:1974
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix ORPHA:367
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:3157
Carey-Fineman-Ziter Syndrome 1
Cataract, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Gastroesophageal reflux... OMIM:254940
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid ... OMIM:613091
Autosomal Dominant Robinow Syndrome
Alopecia, Median cleft lip and palate, Curly eyelashes, Open bite, High, narrow palate, Abnormali... ORPHA:3107
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Cowden Syndrome
Cataract, Hypopigmented skin patches, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Mel... ORPHA:201
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... ORPHA:464738
Pelvis-Shoulder Dysplasia
Microglossia, Cleft palate, Microcornea, Thick anterior alveolar ridges, Iris coloboma ORPHA:2839
Gracile Bone Dysplasia
Ankyloglossia, Short stature OMIM:602361
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Postnatal growth retardation, Diastema, Thick lower lip vermilion, Growth dela... OMIM:301040
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Postnatal growth retardation, Cleft lip, Carious teeth, Pierre-... OMIM:117650
Cholestasis, Progressive Familial Intrahepatic, 8
Esophageal varix OMIM:619662
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Robinow Syndrome
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... ORPHA:97360
Focal Dermal Hypoplasia
Abnormal dental morphology, Abnormal dental enamel morphology, Corneal opacity, Abnormality of th... ORPHA:2092
Cholesteryl Ester Storage Disease
Esophageal varix, Steatorrhea OMIM:278000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, High palat... ORPHA:453499
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Deep philtrum, Cleft palate OMIM:610536
Caroli Disease
Cholangiocarcinoma, Esophageal varix, Conjunctival icterus ORPHA:53035
Kinsship Syndrome
Thin upper lip vermilion, Synophrys, Thick lower lip vermilion, Gingival overgrowth, Downturned c... OMIM:619297
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Cataract, Corneal opacity, Cleft palate, Abnormality of skin pigmentation, ... ORPHA:1052
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gingivitis, Giant melanosomes in mel... OMIM:214500
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Conjunctival telangiectasia, Gastrointestinal hemorrhage ORPHA:774
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Esophageal stricture, Corneal erosion, Conjunctivitis, Dysphagia ORPHA:36426
Fanconi Anemia, Complementation Group B
Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Fryns Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upper lip, Esoph... OMIM:229850
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Abnormality of skin pigmentation, Acholic stools ORPHA:1414
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Growth delay, Macroglossia, Downturned corners of mouth, Everted lower lip ver... ORPHA:96147
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Fair hair OMIM:250250
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Rhizomelia, Short st... OMIM:180700
Cerebrocostomandibular Syndrome
Short stature, Cleft palate, Glossoptosis, Intrauterine growth retardation, Short hard palate ORPHA:1393
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Corneal... ORPHA:79408
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations OMIM:211530
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Neo... OMIM:269860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... ORPHA:352665
Congenital Disorder Of Glycosylation, Type Iie
Short stature, Protruding tongue, Growth delay, Thick vermilion border, Narrow mouth, Intrauterin... OMIM:608779
Brittle Cornea Syndrome 1
Red hair, Dentinogenesis imperfecta OMIM:229200
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Brittle hair, Highly arched eyebrow, Pyloric stenosis, Synophrys, ... OMIM:602535
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Protruding tongue, Brushfield spots, High, narrow palate, Macroglossia, Pigmentary reti... OMIM:214100
Otopalatodigital Syndrome Type 2
Cataract, Developmental glaucoma, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia,... ORPHA:90652
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Short stature, Protruding tongue, Deep philtrum, Gingival overgrowth, Narro... ORPHA:99843
Tarp Syndrome
Abnormal hair pattern, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptos... ORPHA:2886
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Cataract, Aganglionic megacolon, Abnormal dental enamel morphology, Abn... ORPHA:818
Hardikar Syndrome
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, E... OMIM:301068
Spondyloepiphyseal Dysplasia Congenita
Growth delay, Glossoptosis, Disproportionate short-trunk short stature, Cleft palate ORPHA:94068
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Cafe-au-lait spot, Anal atresia OMIM:614083
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... OMIM:619950
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Catel-Manzke Syndrome
Cleft upper lip, Postnatal growth retardation, Pierre-Robin sequence, Cleft palate, Glossoptosis,... OMIM:616145
Incontinentia Pigmenti
Delayed eruption of teeth, Cataract, Abnormal dental morphology, Abnormal dental enamel morpholog... ORPHA:464
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... OMIM:268310
Caroli Syndrome
Cholangiocarcinoma, Hematemesis, Conjunctival icterus, Esophageal varix, Melena ORPHA:480520
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis, Abnormality of the nail ORPHA:247353
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cleft lip, Furrowed tongue, Gastroesophageal reflux, High palate, Broad alveolar ridges, Peters a... OMIM:616975
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Short stature, High, narrow palate, Pyloric stenosis, Cleft palate, Gro... ORPHA:261330
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Anal atresia OMIM:617925
Stuve-Wiedemann Syndrome 1
Pursed lips, Carious teeth, Blotching pigmentation of the skin, Thin vermilion border, Smooth ton... OMIM:601559
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched e... ORPHA:444077
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Prader-Willi Syndrome Due To Translocation
Thin upper lip vermilion, Hypopigmentation of hair, Carious teeth, Alveolar ridge overgrowth, Cle... ORPHA:177907
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Microphthalmia, Syndromic 3
Esophageal atresia, Cataract, Sclerocornea OMIM:206900
Au-Kline Syndrome
Supernumerary nipple, Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia... OMIM:616580
Wilson Disease
Kayser-Fleischer ring, Esophageal varix, Dysphagia, Hepatocellular carcinoma OMIM:277900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Esophageal varix, Hepatocellular adenoma ORPHA:264580
Hurler Syndrome
Corneal opacity, Abnormality of skin pigmentation, Macroglossia, Everted lower lip vermilion, Thi... ORPHA:93473
Distal Deletion 15Q
Thin upper lip vermilion, Short stature, Abnormality of the dentition, Postnatal growth retardati... ORPHA:1596
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Cataract, Malabsorption, Abnormality of the dentition, ... ORPHA:235
Apert Syndrome
Delayed eruption of teeth, Pyloric stenosis, Esophageal atresia, Dental malocclusion, Narrow pala... OMIM:101200
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix OMIM:263200
1Q21.1 Microdeletion Syndrome
Short stature, High palate, Long philtrum, Intrauterine growth retardation, Ankyloglossia ORPHA:250989
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Prominent corneal nerve fibers, Abnormal tongue morphology, Neoplasm of th... ORPHA:653
Charcot-Marie-Tooth Disease Type 4C
Anisocoria, Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations ORPHA:99949
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... OMIM:164280
Immunodeficiency 23
Esophageal stricture, High palate OMIM:615816
Aicardi Syndrome
Intestinal polyposis, Abnormality of retinal pigmentation, Hiatus hernia, Malabsorption, Cleft up... ORPHA:50
Pallister-Hall Syndrome
Natal tooth, Short stature, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death... OMIM:146510
Stickler Syndrome
Cataract, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Ectopia lentis, Cleft pa... ORPHA:828
Mirage Syndrome
Achalasia, Gastroesophageal reflux, Esophageal stricture OMIM:617053
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Synophrys, Gingival overgrowth, High palate, Micro... OMIM:619777
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Duodenal ulcer, Intestinal malrotation, Coni... OMIM:135900
Fanconi Anemia
Cataract, Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Clef... ORPHA:84
Meckel Syndrome
Cataract, Aplasia/Hypoplasia of the tongue, Sclerocornea, Cleft palate, Furrowed tongue, Microcor... ORPHA:564
Distal Deletion 12Q
Median cleft lip, High, narrow palate, Esophageal atresia, Pyloric stenosis, Supernumerary tooth,... ORPHA:96149
Giant Cell Arteritis
Alopecia, Glossitis ORPHA:397
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Achondrogenesis, Type Ia
Stillbirth, Disproportionate short-trunk short stature, Protruding tongue OMIM:200600
Vici Syndrome
Everted upper lip vermilion, Median cleft lip, Hypopigmentation of hair, Cleft upper lip, Albinis... OMIM:242840
Opitz Gbbb Syndrome
Natal tooth, Short stature, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, Hig... ORPHA:2745
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix, Corneal opacity ORPHA:2072
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Cleft palate, Abnormality of the dentition ORPHA:90354
Gabriele-De Vries Syndrome
Abnormality of upper lip vermillion, Lacrimal duct stenosis, Oral-pharyngeal dysphagia, Abnormali... ORPHA:506358
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Esophageal atresia, Cafe-au-lait spot, Tracheoesophageal fistula OMIM:227646
Maternal Phenylketonuria
Esophageal atresia, High palate, Long philtrum ORPHA:2209
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide mouth, Bifid uvula OMIM:301030
Cousin Syndrome
Microcornea, Microglossia, Alveolar ridge overgrowth, Cleft palate OMIM:260660
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Short stature, Carious teeth, High, narrow palate, Thick lower lip verm... OMIM:615873
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Short stature, Cleft palate, Downturned corners of mouth, Intrauterine growth retardation, Ankylo... ORPHA:488642
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Growth delay, Stomatitis, Intrauterine growth retardation, Glossitis, Smooth philtrum ORPHA:79282
Neuroocular Syndrome
Cataract, Peters anomaly, Brushfield spots, Short uvula, Submucous cleft hard palate, Blue irides... OMIM:619539
Wolfram Syndrome
Gastrointestinal hemorrhage, Gastric ulcer, Malabsorption ORPHA:3463
Joubert Syndrome 1
Highly arched eyebrow, Macroglossia, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ileus, Hypopigmente... ORPHA:163746
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Sparse scalp hair, Absent nipple, Protruding tongue, High, narrow palat... OMIM:612289
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Malabsorption, Ocu... ORPHA:79430
Incontinentia Pigmenti
Delayed eruption of teeth, Cataract, Conical tooth, Keratitis, Abnormality of skin pigmentation, ... OMIM:308300
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Corneal opacity, Abnormal dental enamel morphology, Scleroco... ORPHA:2556
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Aphthous ulcer, Esophageal varix, Oral ulcer OMIM:615688
Blomstrand Lethal Chondrodysplasia
Natal tooth, Rhizomelia, Protruding tongue, Long philtrum, Neonatal short-limb short stature ORPHA:50945
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Esophageal stricture, Gastrointestinal i... ORPHA:79404
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion, Abnormality of skin pigmentation, Wide mouth, Thin vermilion bo... ORPHA:920
Yunis-Varon Syndrome
Cataract, Premature loss of primary teeth, Sclerocornea, Abnormality of dental structure, High, n... ORPHA:3472
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Protruding tongue, Synophrys, High palate OMIM:617062
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... OMIM:249000
Down Syndrome
Aganglionic megacolon, Protruding tongue, Brushfield spots, Duodenal stenosis, Macroglossia, Anal... OMIM:190685
Degcags Syndrome
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Hi... OMIM:619488
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... ORPHA:2729
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Tongue atrophy, Cataract ORPHA:466768
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Carious teeth, Sparse eyebrow, Downturned c... OMIM:620186
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Intrauterine g... OMIM:151050
Senior-Boichis Syndrome
Esophageal varix ORPHA:84081
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cataract, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal at... ORPHA:93271
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... ORPHA:434179
Syndromic Diarrhea
Villous atrophy, Brittle hair, Gastritis, Hypopigmentation of hair, Colitis, Uncombable hair, Woo... ORPHA:84064
Arima Syndrome
Wide mouth, Esophageal varix OMIM:243910
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia OMIM:263520
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Esophageal varix, High palate, Intestinal malrotation OMIM:613658
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... OMIM:615948
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, Cleft palate, C... OMIM:265380
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Ag... OMIM:619841
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Lysosomal Acid Lipase Deficiency
Esophageal varix, Steatorrhea ORPHA:275761
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... ORPHA:731
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypopigmentation of the skin, Thin upper lip vermilion, Cataract, High, narrow palate, Short uvul... OMIM:619475
Microsporidiosis
Keratitis, Corneal ulceration, Glossitis, Keratoconjunctivitis ORPHA:2552
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Hypoplastic philtrum, Protru... OMIM:309580
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Few cafe-au-lait spots, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Cle... OMIM:619503
Glucagonoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormal gastrointestinal motility, Steatorr... ORPHA:97280
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Absent eyebrow, Short lingual frenulum, Dental crowding, Alopecia tota... ORPHA:740
Smith-Lemli-Opitz Syndrome
Cataract, Aganglionic megacolon, Intestinal malrotation, Dental crowding, Pyloric stenosis, Gastr... OMIM:270400
Fraser Syndrome
Anal stenosis, Dental crowding, Abnormal hair pattern, Cleft upper lip, Dental malocclusion, Orof... ORPHA:2052
Ring Chromosome 7 Syndrome
Cleft palate, Abnormality of skin pigmentation, Thin vermilion border, Short philtrum, Median cle... ORPHA:1449
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Short stature, Smooth tongue, Abnormality of the dentition ORPHA:3206
Ring Chromosome 13 Syndrome
Abnormality of skin pigmentation, High palate, Short philtrum, Cafe-au-lait spot, Anal atresia, A... ORPHA:96176
Kawasaki Disease
Abnormality of nail color, Glossitis, Cheilitis ORPHA:2331
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Multiple lentigines, Abnorm... ORPHA:1359
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula ORPHA:95430
Plague
Chapped lip, Hematemesis, Enterocolitis, Inflammation of the large intestine, Conjunctival hypere... ORPHA:707
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Protruding tongue ORPHA:98889
Vascular Ehlers-Danlos Syndrome
Keratoconus, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, ... ORPHA:286
Charge Syndrome
Anal stenosis, Cataract, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Cleft pa... OMIM:214800
Viss Syndrome
Chronic gastritis, Sparse scalp hair, Alopecia, Duodenitis, Intestinal malrotation, Cleft soft pa... OMIM:619472
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Short nail, Supernumerary nipple, Submu... OMIM:312870
Microphthalmia, Syndromic 6
Sclerocornea, Cleft palate, Microcornea, High palate, Microglossia, Bifid uvula OMIM:607932
Vater/Vacterl Association
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:192350
Pallister-Hall Syndrome
Natal tooth, Short stature, Accessory oral frenulum, Cleft lip, Cleft palate, Intrauterine growth... ORPHA:672
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Everted lower lip vermilion, Esophageal varix OMIM:619534
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia OMIM:619525
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Alström Syndrome
Abnormality of dental color, Cataract, Posterior subcapsular cataract, Esophageal varix, Gingivit... ORPHA:64

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 Krt4

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 Krt4.

No publications found that use IMPC mice or data for Krt4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Krt4tm96616(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Krt4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Krt4tm96616(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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