Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mitogen-activated protein kinase kinase kinase 11
Synonyms:
2610017K16Rik,  Mlk3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Map3k11 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Map3k11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Advanced eruption of teeth, Abnorma... ORPHA:1028
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Laryngoonychocutaneous Syndrome
Skin ulcer, Amelogenesis imperfecta OMIM:245660
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Anonychia With Flexural Pigmentation
Carious teeth, Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis OMIM:615328
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... OMIM:228560
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... ORPHA:2228
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Carious teeth, Hypodontia, Plantar hyperkeratosis, Oral mucosal blisters OMIM:226650
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Palmoplantar keratoderma, Premature loss of teeth OMIM:161000
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Pycnodysostosis
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Absent frontal sinu... OMIM:265800
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Pyle Disease
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Abs... OMIM:265900
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Ameloonychohypohidrotic Syndrome
Dry skin, Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, H... OMIM:104570
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Ramon Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Hyperkeratosis, Ging... ORPHA:3019
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Malar flattening, Dental malocclusion OMIM:616108
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Hemifacial Atrophy, Progressive
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion OMIM:141300
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin, Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta OMIM:615905
Otodental Dysplasia
Hypodontia, Pulp calcification, Taurodontia, Long philtrum OMIM:166750
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Palmoplantar keratoderma, Delayed eruption of teeth ORPHA:1816
Osteogenesis Imperfecta, Type Xii
Micrognathia, High palate, Malar flattening, Delayed eruption of teeth, Narrow mouth OMIM:613849
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Catifa Syndrome
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Oculotrichodysplasia
Carious teeth, Widely spaced primary teeth, Dry skin, Microdontia of primary teeth, Scaling skin,... OMIM:257960
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Orthokeratosis, Short philtrum, Hyperkeratosis OMIM:617337
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Jalili Syndrome
Carious teeth, Amelogenesis imperfecta OMIM:217080
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Macroglossia, Delayed eruption of teeth OMIM:614450
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... OMIM:129540
Taurodontism
Taurodontia OMIM:272700
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion ORPHA:181
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Parakeratosis OMIM:604117
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Broad alveolar... ORPHA:2863
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Delayed eruption of tee... ORPHA:2325
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Retrognathia, Dental... OMIM:613684
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis, Thick vermilion border ORPHA:363523
Acrofacial Dysostosis, Weyers Type
Hypodontia, Solitary median maxillary central incisor, Advanced eruption of teeth, Conical tooth,... ORPHA:952
Eem Syndrome
Carious teeth, Widely spaced teeth, Microdontia, Selective tooth agenesis, Abnormality of dental ... ORPHA:1897
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth ORPHA:181393
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Pachyonychia Congenita
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Advanced eru... ORPHA:2309
Premature Aging Syndrome, Penttinen Type
Micrognathia, Thin vermilion border, Delayed eruption of teeth, Hyperkeratosis, Hypoplasia of the... OMIM:601812
Pachyonychia Congenita 2
Natal tooth, Palmoplantar hyperkeratosis, Subungual hyperkeratosis OMIM:167210
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De... ORPHA:3352
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... ORPHA:1946
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth, Subungual hyperkeratosis, Supernumerary tooth, Abnormalit... ORPHA:69087
Immunodeficiency 49
Natal tooth, Micrognathia, Cutis laxa, Short philtrum OMIM:617237
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Macroglossia, Delayed eruption of teeth, Broad philtrum, Thick vermil... OMIM:616354
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin, High palate, Advanced eruption of teeth, Mandibular prognathia OMIM:262190
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Erythema, Persistence of primary teeth OMIM:147060
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Carious teeth, Hypodontia, Erythema, Palmoplantar keratoderma, Abnormality of the gingiva, Abnorm... ORPHA:659
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding OMIM:618825
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Abnormal soft palate morphol... ORPHA:884
Frank-Ter Haar Syndrome
Premature loss of teeth, Short philtrum, Wide mouth, Mandibular prognathia, Gingival overgrowth, ... ORPHA:137834
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Purpura ORPHA:375
Mandibulofacial Dysostosis With Alopecia
Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip ve... OMIM:616367
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Open bite, Mandibular prognathia, Abnormality of dental eruption, Downturned corners... ORPHA:1327
Laron Syndrome
Micrognathia, Tooth agenesis, Microdontia, Delayed eruption of teeth ORPHA:633
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Narrow mouth, Open mouth OMIM:619356
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Long philtrum, Abnormal dental ... OMIM:257850
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Narrow palate, Dental ... OMIM:264475
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding OMIM:600907
Barber-Say Syndrome
High, narrow palate, Micrognathia, High palate, Wide mouth, Mandibular prognathia, Thin vermilion... OMIM:209885
Aredyld Syndrome
Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eruption of t... ORPHA:1133
Epidermolysis Bullosa, Junctional, Herlitz Type
Carious teeth, Enamel hypoplasia OMIM:226700
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis OMIM:226670
48,Xxyy Syndrome
Carious teeth, Thick lower lip vermilion, Cleft palate, Open bite, Broad jaw, Abnormal dental ena... ORPHA:10
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
4H Leukodystrophy
Abnormality of the dentition, Hypodontia, Drooling, Delayed eruption of teeth ORPHA:289494
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Carious teeth, Oral mucosal blisters, Skin vesicle ORPHA:79410
Temple-Baraitser Syndrome
Everted upper lip vermilion, High palate, Wide mouth, Long philtrum, Malar flattening, Gingival o... ORPHA:420561
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Enamel hypoplasia, Palmoplantar keratoderma, Facial erythema OMIM:612843
Aarskog-Scott Syndrome
Cleft palate, Long philtrum, Cleft upper lip, Delayed eruption of teeth, Abnormality of the denti... ORPHA:915
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Delayed eruption of teeth, Oligodontia OMIM:614381
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Supernumerary tooth, Delayed eruption of teeth, Palmar hyperke... ORPHA:2980
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Microdontia, Mandibular prognathia, Malar flattening, Absent paranasa... OMIM:269300
Oral Erosive Lichen
Dry skin, Erythema, Cheilitis, Oral ulcer ORPHA:31142
Char Syndrome
Short philtrum, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Persistenc... ORPHA:46627
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Coffin-Siris Syndrome 3
Macroglossia, Delayed eruption of permanent teeth, Wide mouth OMIM:614608
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Cleft palate, High palate, Delayed eruption of permanent teeth, Oligodontia, Malar ... OMIM:170390
Hall-Riggs Syndrome
Wide mouth, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturned corners of m... ORPHA:2107
Craniolenticulosutural Dysplasia
Carious teeth, Smooth philtrum, High palate, Microdontia, Wide mouth, Long philtrum, Premature lo... ORPHA:50814
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Malan Syndrome
Mandibular prognathia, Narrow mouth, Everted lower lip vermilion, Advanced eruption of teeth OMIM:614753
Short Syndrome
Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of mouth, Premature skin ... OMIM:269880
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Hypodontia, Oligodontia OMIM:601345
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Crowded maxillary incisors, Micrognathia, Narrow palate, Tooth agenes... ORPHA:2063
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent teeth, Facial hyperos... OMIM:218400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Bifid uvula, Delayed eruption of teeth, Dental malocclusion OMIM:612350
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Dry skin, Abnormality of the dentition, Palmoplantar hyperkeratosis OMIM:206600
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Delayed eruption of permanent teeth, Gingival overgrowth, Amel... OMIM:204690
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Cleft palate, Oligodontia, Long philtrum, Solitary median maxillary c... ORPHA:2712
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Delayed eruption of teeth... OMIM:157980
Cherubism
Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Multiple impacted teeth, Den... OMIM:118400
Tooth Agenesis, Selective, 4
Dry skin, Peg-shaped maxillary lateral incisors, Tooth agenesis OMIM:150400
Trichodermodysplasia-Dental Alterations Syndrome
Supernumerary tooth, Palmoplantar keratoderma, Delayed eruption of teeth, Abnormality of dental m... ORPHA:3353
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Persistence of primary teeth, Mandibular osteomyelitis, Mandibular prognathia OMIM:259710
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Acantholysis OMIM:609638
Helsmoortel-Van Der Aa Syndrome
Widely spaced teeth, Thick lower lip vermilion, Smooth philtrum, Wide mouth, Long philtrum, Advan... OMIM:615873
Osteoglosphonic Dysplasia
Micrognathia, Tooth agenesis, Multiple unerupted teeth ORPHA:2645
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
X-Linked Non-Syndromic Intellectual Disability
Thick lower lip vermilion, Long philtrum, Drooling, Delayed eruption of teeth, Thin upper lip ver... ORPHA:777
Enamel-Renal Syndrome
Gingival overgrowth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Delayed eruption... ORPHA:1031
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Eiken Syndrome
Thick lower lip vermilion, Short philtrum, Eruption failure, Oligodontia, Multiple impacted teeth... OMIM:600002
Three M Syndrome 2
High palate, Long philtrum, Malar flattening, Delayed eruption of teeth, Thick vermilion border, ... OMIM:612921
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Delayed eruption of teeth, Gingivitis, Abnormality of the dentition, Skin ulcer, Sk... ORPHA:2314
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microdontia, Oligodontia, Malar flattening, Conical tooth, Enamel hypoplasia, Dental malocclusion... OMIM:618727
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Acrocraniofacial Dysostosis
Natal tooth, Micrognathia, Cleft palate, Short philtrum OMIM:201050
Coffin-Lowry Syndrome
Widely spaced teeth, Thick lower lip vermilion, Hypodontia, High palate, Wide mouth, Delayed erup... ORPHA:192
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Micrognathia, Cleft palate, High, narrow palate, Open bite, Mandibular ... ORPHA:1452
Teebi Hypertelorism Syndrome 1
Natal tooth, Dental crowding, Long philtrum OMIM:145420
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Micrognathia, Microdontia, Long philtrum, Delayed eruption of teeth, Deep philtrum... OMIM:190350
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Micrognathia, Cleft palate, Hypodontia, Palmoplantar keratoderma, Abnormal d... ORPHA:1071
Familial Benign Chronic Pemphigus
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle ORPHA:2841
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Taurodontia, Macrodontia ORPHA:3214
Lelis Syndrome
Carious teeth, Hypodontia, Mandibular prognathia, Furrowed tongue, Abnormality of the mouth, Palm... ORPHA:140936
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Thick upper lip vermilion... ORPHA:2563
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Delayed eruption of teeth, Drooling, Oligodontia ORPHA:447896
Hypophosphatasia, Adult
Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth OMIM:146300
Pycnodysostosis
Carious teeth, Micrognathia, High palate, Hypodontia, Delayed eruption of permanent teeth, Obtuse... ORPHA:763
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypop... ORPHA:90322
Trisomy 9P
Impacted tooth, Non-midline cleft lip, Downturned corners of mouth, Dental crowding ORPHA:236
Emanuel Syndrome
Micrognathia, Cleft palate, Redundant neck skin, High palate, Long philtrum, Submucous cleft lip,... ORPHA:96170
Frontometaphyseal Dysplasia 1
High palate, Antegonial notching of mandible, Delayed eruption of teeth, Selective tooth agenesis... OMIM:305620
Marbach-Rustad Progeroid Syndrome
Hypodontia, Micrognathia, Smooth philtrum, Eruption failure, Delayed eruption of primary teeth, N... OMIM:619322
Acrodysostosis
Open bite, Mandibular prognathia, Delayed eruption of teeth, Open mouth, Hypoplasia of the maxilla ORPHA:950
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Macroglossia, Mandibular prognathia, Malar flattening, Everted lowe... OMIM:610253
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Micrognathia, Cleft palate, Bifid uvula, Delayed eruption of teeth, Retrogna... ORPHA:2780
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Corneodermatoosseous Syndrome
Carious teeth, Erythema, Palmoplantar keratoderma, Abnormal dental enamel morphology, Gingivitis ORPHA:3194
Kohlschutter-Tonz Syndrome-Like
Widely spaced teeth, Carious teeth, Smooth philtrum, Drooling, Amelogenesis imperfecta, Delayed e... OMIM:619229
Sotos Syndrome
High, narrow palate, High palate, Mandibular prognathia, Advanced eruption of teeth, Narrow palate OMIM:117550
Oslam Syndrome
Carious teeth ORPHA:2760
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Delayed eruption of teeth, Abnormality of the mouth ORPHA:73272
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum OMIM:184260
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Emanuel Syndrome
Micrognathia, High palate, Cleft palate, Long philtrum, Broad jaw, Delayed eruption of primary te... OMIM:609029
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, High palate, Irregular dentition, Short philtrum, Gingival overgrowth, Delayed erup... OMIM:619148
Lowry-Maclean Syndrome
High, narrow palate, Micrognathia, Cleft palate, Talon cusp, Downturned corners of mouth, Delayed... ORPHA:2409
Sener Syndrome
Hypodontia, High palate, Smooth philtrum, Wide mouth, Delayed eruption of permanent teeth, Natal ... OMIM:606156
Cole-Carpenter Syndrome
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2050
Rothmund-Thomson Syndrome
Carious teeth, Microdontia, Supernumerary tooth, Abnormal dental enamel morphology, Delayed erupt... ORPHA:2909
Dysosteosclerosis
Micrognathia, High palate, Premature loss of teeth, Oligodontia, Delayed eruption of teeth, Absen... OMIM:224300
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Barber-Say Syndrome
Redundant skin, Wide mouth, Delayed eruption of teeth ORPHA:1231
Raine Syndrome
Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Mandibular prognathia, Malar fl... OMIM:259775
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Long philtrum ORPHA:263463
Gapo Syndrome
Thick lower lip vermilion, High, narrow palate, Micrognathia, Eruption failure, Abnormality of th... OMIM:230740
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Micrognathia, Wide mouth, Long philtrum, Abnormality of dental eruption, Eve... ORPHA:96092
Lethal Acantholytic Erosive Disorder
Natal tooth, Cleft palate, Acantholysis ORPHA:158687
48,Xxxy Syndrome
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... ORPHA:96263
Melnick-Needles Syndrome
Tooth malposition, Micrognathia, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:2484
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, High palate, Oligodontia, Persistence of primary teeth... ORPHA:37553
Ellis-Van Creveld Syndrome
Hypodontia, Abnormality of the alveolar ridges, Cleft upper lip, Delayed eruption of teeth, Natal... OMIM:225500
Gapo Syndrome
Abnormal palate morphology, Micrognathia, Long philtrum, Mandibular prognathia, Delayed eruption ... ORPHA:2067
Smith-Magenis Syndrome
Micrognathia, Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Tented upper ... ORPHA:819
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Micrognathia, Gingival overgrowth ORPHA:313855
Elsahy-Waters Syndrome
Thick lower lip vermilion, High palate, Long philtrum, Mandibular prognathia, Malar flattening, B... OMIM:211380
Acrocraniofacial Dysostosis
Micrognathia, Cleft palate, Short philtrum, Advanced eruption of teeth ORPHA:949
Rothmund-Thomson Syndrome Type 2
Carious teeth, Cleft palate, High palate, Microdontia, Erythema, Abnormal dental enamel morpholog... ORPHA:221016
Hallermann-Streiff Syndrome
High, narrow palate, Micrognathia, High palate, Supernumerary tooth, Malar flattening, Thin vermi... OMIM:234100
3M Syndrome
Abnormal dental enamel morphology, Everted lower lip vermilion, Delayed eruption of teeth, Long p... ORPHA:2616
Ramon Syndrome
Gingival fibromatosis, Narrow palate, Delayed eruption of teeth, Hyperkeratosis OMIM:266270
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Micrognathia, Cleft palate, High palate, Agenesis of centr... ORPHA:2751
49,Xxxxy Syndrome
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... ORPHA:96264
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Incontinentia Pigmenti
Hypodontia, Erythema, Delayed eruption of teeth, Hyperkeratosis, Pallor OMIM:308300
Kleefstra Syndrome
Macroglossia, Mandibular prognathia, Malar flattening, Delayed eruption of teeth, Advanced erupti... ORPHA:261494
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Smooth philtrum, Oligodontia, Gingival overgrowth, Malar flattening, Delayed eru... OMIM:235510
Rabson-Mendenhall Syndrome
High palate, Macroglossia, Mandibular prognathia, Gingival overgrowth, Furrowed tongue, Advanced ... ORPHA:769
Craniolenticulosutural Dysplasia
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Malar flattening, Bifid ... OMIM:607812
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Microdontia, Oligodontia ORPHA:2315
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, High palate, Eruption failure, Long philtrum, Abnormality of the dentition, Dental ... ORPHA:476126
Incontinentia Pigmenti
Hypodontia, Erythema, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormality o... ORPHA:464
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Kabuki Syndrome 2
Hypodontia, High palate, Micrognathia, Cleft palate, Lower lip pit, Dental malocclusion, Natal tooth OMIM:300867
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Delayed eruption of permanent teeth, Premature loss of teeth, Periodontitis, Dentinogenesis imper... OMIM:619269
Rothmund-Thomson Syndrome Type 1
Carious teeth, Microdontia, Abnormal dental enamel morphology, Delayed eruption of teeth, Facial ... ORPHA:221008
Cleidocranial Dysplasia
High, narrow palate, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth... OMIM:119600
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Mandibular prognathia, Tooth malposition, ... ORPHA:2769
Otopalatodigital Syndrome, Type I
Cleft palate, Malar flattening, Absent frontal sinuses, Selective tooth agenesis, Narrow mouth, M... OMIM:311300
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Cheilitis, Chapped lip, Palmoplantar keratoderma, Abnormality of dental morphology... ORPHA:158668
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Premature eruption of permanent teeth ORPHA:199276
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cleft palate, Long philtrum, Advanced eruption of teeth, Abnormal mandible morphology, Downturned... ORPHA:2215
Kleefstra Syndrome Due To A Point Mutation
Thick lower lip vermilion, Abnormality of the dentition, Natal tooth ORPHA:261652
Mucopolysaccharidosis, Type Ii
Widely spaced teeth, Macroglossia, Delayed eruption of teeth, Thick lower lip vermilion OMIM:309900
Microphthalmia, Lenz Type
Abnormality of dental morphology, Abnormality of the dentition, Delayed eruption of teeth, Oral c... ORPHA:568
De Barsy Syndrome
High palate, Cutis laxa, Excessive wrinkled skin, Delayed eruption of teeth, Small, conical teeth... ORPHA:2962
Apert Syndrome
Cleft palate, Mandibular prognathia, Bifid uvula, Delayed eruption of teeth, Narrow palate, Hypop... ORPHA:87
Familial Adenomatous Polyposis 1
Carious teeth, Eruption failure, Supernumerary tooth, Odontoma, Abnormality of the dentition OMIM:175100
Carpenter Syndrome 1
Micrognathia, High palate, Malar flattening, Persistence of primary teeth, Hypoplasia of the maxi... OMIM:201000
Rothmund-Thomson Syndrome, Type 2
Micrognathia, High palate, Microdontia, Mandibular prognathia, Supernumerary tooth, Delayed erupt... OMIM:268400
Acrodysostosis 1 With Or Without Hormone Resistance
Hypodontia, Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Hypoplasia of ... OMIM:101800
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Endocrine-Cerebroosteodysplasia
Micrognathia, Cleft palate, Cleft upper lip, Malar flattening, Natal tooth OMIM:612651
Apert Syndrome
Cleft palate, Mandibular prognathia, Malar flattening, Bifid uvula, Delayed eruption of teeth, Na... OMIM:101200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Cleft palate, Bifid tongue, Cleft lip, Lobulated tongue, Natal tooth, M... OMIM:616300
Cockayne Syndrome Type 1
Widely spaced primary teeth, Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypop... ORPHA:90321
Ellis Van Creveld Syndrome
Conical incisor, Hypodontia, Microdontia, Thin vermilion border, Delayed eruption of teeth, Abnor... ORPHA:289
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Delayed eruption of permanent teeth, Short philtrum, Tented upper lip verm... ORPHA:521445
Hallermann-Streiff Syndrome
High, narrow palate, Micrognathia, Supernumerary tooth, Malar flattening, Glossoptosis, Abnormali... ORPHA:2108
Genitopatellar Syndrome
Micrognathia, Delayed eruption of teeth, Long philtrum ORPHA:85201
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Submucous cleft hard palate, Bifid uvula, Delayed eruption of teeth, Narrow mouth, ... OMIM:300990
Dubowitz Syndrome
Carious teeth, Micrognathia, High palate, Velopharyngeal insufficiency, Delayed eruption of teeth... OMIM:223370
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Dry skin, Gingival overgrowth, Delayed eruption of teeth ORPHA:508542
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Abnormal dental enamel morphology, Delayed eruption of teeth... ORPHA:534
Osteopathia Striata With Cranial Sclerosis
Thick lower lip vermilion, Micrognathia, High palate, Cleft palate, Pierre-Robin sequence, Cleft ... OMIM:300373
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Delayed eruption of permanent teeth, Dental crowding, Long philtrum, Macroglossia, ... OMIM:268310
Robinow Syndrome
Hypodontia, Micrognathia, Dental crowding, Long philtrum, Tooth malposition, Gingival overgrowth,... ORPHA:97360
Zimmermann-Laband Syndrome 1
Thick lower lip vermilion, High palate, Mandibular prognathia, Gingival overgrowth, Delayed erupt... OMIM:135500
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, High palate, Dental crowding, Long philtrum, Macroglossia, Malar flattening, Gingiv... OMIM:180700
Hennekam Syndrome
Short philtrum, Supernumerary tooth, Gingival overgrowth, Delayed eruption of teeth, Abnormal ora... ORPHA:2136
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Thick lower lip vermilion, High, narrow palate, Micrognathia, Macroglossia, Delayed eruption of t... ORPHA:369950
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cleft palate, Failure of eruption of permanent teeth, Tooth malposition, Bifid uvula, Submucous c... ORPHA:2250
Miller-Dieker Lissencephaly Syndrome
Micrognathia, Cleft palate, Thick upper lip vermilion, Delayed eruption of teeth, Thin upper lip ... OMIM:247200
Spondyloenchondrodysplasia
Delayed eruption of teeth, Dental malocclusion ORPHA:1855
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Gingival overgrowth, Delayed eruption of teeth OMIM:259600
Dubowitz Syndrome
Micrognathia, High palate, Wide mouth, Delayed eruption of teeth, Dry skin, Abnormality of the de... ORPHA:235
Osteoglophonic Dysplasia
High palate, Eruption failure, Long philtrum, Mandibular prognathia, Malar flattening OMIM:166250
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of teeth, Narrow mouth, Oral ... ORPHA:77301
Wrinkly Skin Syndrome
Carious teeth, Neonatal wrinkled skin of hands and feet, Smooth philtrum, High palate, Palmoplant... OMIM:278250
Dihydropyrimidine Dehydrogenase Deficiency
High palate, Deep philtrum, Delayed eruption of teeth, Open mouth, Retrognathia ORPHA:1675
Cornelia De Lange Syndrome 1
Widely spaced teeth, High, narrow palate, Micrognathia, Cleft palate, High palate, Long philtrum,... OMIM:122470
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Absent ethmoidal sinuses, Malar flattening, Bifid uvula, Absent frontal sinuses, Abn... OMIM:211910
Wrinkly Skin Syndrome
Carious teeth, Smooth philtrum, Cutis laxa, High palate, Long philtrum, Excessive wrinkled skin, ... ORPHA:2834
Osteopetrosis With Renal Tubular Acidosis
Thick lower lip vermilion, Micrognathia, High palate, Tooth malposition, Abnormality of the denti... ORPHA:2785
Stickler Syndrome
Micrognathia, Cleft palate, Open bite, Long philtrum, Macroglossia, Cleft upper lip, Malar flatte... ORPHA:828
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Micrognathia, Advanced eruption of teeth ORPHA:280365
Blomstrand Lethal Chondrodysplasia
Micrognathia, Long philtrum, Malar flattening, Natal tooth, Protruding tongue ORPHA:50945
Lead Poisoning
Delayed eruption of teeth ORPHA:330015
Cockayne Syndrome A
Carious teeth, Mandibular prognathia, Delayed eruption of primary teeth, Dental malocclusion, Dry... OMIM:216400
Restrictive Dermopathy
Epidermal hyperkeratosis, Micrognathia, Temporomandibular joint ankylosis, Dermal translucency, N... ORPHA:1662
Pitt-Hopkins Syndrome
Abnormal palate morphology, Short philtrum, Wide mouth, Failure of eruption of permanent teeth, T... ORPHA:2896
Gardner Syndrome
Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth ORPHA:79665
Hutchinson-Gilford Progeria Syndrome
Micrognathia, High palate, Short lingual frenulum, Hypodontia, Thin vermilion border, Delayed eru... ORPHA:740
Smith-Lemli-Opitz Syndrome
Micrognathia, Cleft palate, Wide mouth, Long philtrum, Supernumerary tooth, Abnormal dental ename... ORPHA:818
Wiedemann-Rautenstrauch Syndrome
Hypodontia, Micrognathia, Malar flattening, Delayed eruption of teeth, Downturned corners of mout... OMIM:264090
Cockayne Syndrome B
Carious teeth, Mandibular prognathia, Delayed eruption of primary teeth, Dental malocclusion, Dry... OMIM:133540
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth OMIM:600373
Melnick-Needles Syndrome
Micrognathia, Cleft palate, Tooth malposition, Obtuse angle of mandible, Delayed eruption of teeth OMIM:309350
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Persistence of primary teeth, Calvarial osteosclerosis ORPHA:93325
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth ORPHA:2036
Osteogenesis Imperfecta
Carious teeth, Micrognathia, Abnormality of dental color, Cutis laxa, Abnormal dental enamel morp... ORPHA:666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Cleft palate, Hamartoma of tongue, Cleft lip, Natal tooth OMIM:617925
Opitz Gbbb Syndrome
Hypodontia, Micrognathia, Cleft palate, High palate, Long philtrum, Cleft lip, Ankyloglossia, Nat... ORPHA:2745
Restrictive Dermopathy 1
Epidermal hyperkeratosis, Micrognathia, Temporomandibular joint ankylosis, Narrow mouth, Natal to... OMIM:275210
Adnp Syndrome
Thick lower lip vermilion, Smooth philtrum, Impaired mastication, Advanced eruption of teeth, Thi... ORPHA:404448
Autosomal Recessive Malignant Osteopetrosis
Premature loss of primary teeth, Pallor, Delayed eruption of teeth ORPHA:667
Microphthalmia, Syndromic 2
Oligodontia, Long philtrum, Submucous cleft hard palate, Supernumerary tooth, Bifid uvula, Delaye... OMIM:300166
Coffin-Siris Syndrome
Thick lower lip vermilion, Wide mouth, Delayed eruption of teeth, Broad philtrum, Thin upper lip ... ORPHA:1465
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Familial Adenomatous Polyposis
Eruption failure, Abnormal cementum morphology, Supernumerary tooth, Odontoma, Abnormality of the... ORPHA:733
Autosomal Recessive Hypophosphatemic Rickets
Tooth abscess, Delayed eruption of teeth ORPHA:289176
Orofaciodigital Syndrome Xiv
Micrognathia, Cleft palate, Hamartoma of tongue, Supernumerary tooth, Bifid tongue, Cleft lip, Lo... OMIM:615948
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Median cleft lip and palate, Lobulated tongue, Natal tooth, Median cleft lip OMIM:269860
Shwachman-Diamond Syndrome
Carious teeth, Sinusitis, Delayed eruption of teeth, Oral ulcer ORPHA:811
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Thin vermilion border, Advanced eruption of teeth, Everted lower lip vermilion, Or... ORPHA:1519
Doors Syndrome
Widely spaced teeth, Thick lower lip vermilion, Macrodontia of permanent maxillary central inciso... ORPHA:79500
Pallister-Hall Syndrome
Cleft upper lip, Natal tooth, Cleft palate, Microglossia OMIM:146510
Schinzel-Giedion Syndrome
Micrognathia, High palate, Wide mouth, Short philtrum, Macroglossia, Abnormality of the gingiva, ... ORPHA:798
Meckel Syndrome, Type 1
Micrognathia, Cleft palate, Wide mouth, Cleft upper lip, Lobulated tongue, Natal tooth OMIM:249000
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Delayed eruption of permanent teeth, Periodontitis, Gingivitis, Oral ulcer ORPHA:79259
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Micrognathia, High palate, Cutis laxa, Wide mouth, Mandibular prognathia, Cleft soft palate, Eryt... OMIM:619503
Cockayne Syndrome
Carious teeth, Abnormal number of teeth, Abnormality of dental morphology, Enamel hypoplasia, Del... ORPHA:191
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Cleft palate, Failure of eruption of permanent teeth OMIM:272460
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Hypodontia, Talon cusp, Supernumerary tooth, Narrow palate, Dental malocclusion, N... ORPHA:353281
Coffin-Siris Syndrome 1
Thick lower lip vermilion, Cleft palate, High palate, Microdontia, Wide mouth, Long philtrum, Sho... OMIM:135900
Camurati-Engelmann Disease
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth ORPHA:1328
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Widely spaced teeth, High palate, Microdontia, Long philtrum, Delayed eruption of teeth OMIM:143095
Singleton-Merten Syndrome 1
Carious teeth, Smooth philtrum, Eruption failure, Hypoplasia of the tooth germ, Hypoplasia of the... OMIM:182250
Focal Dermal Hypoplasia
Hypodontia, Cleft palate, Oligodontia, Cleft upper lip, Delayed eruption of teeth, Enamel hypopla... OMIM:305600
Floating-Harbor Syndrome
Carious teeth, Wide mouth, Microdontia, Oligodontia, Short philtrum, Persistence of primary teeth... ORPHA:2044
Wiedemann-Rautenstrauch Syndrome
Hypodontia, Premature loss of teeth, Short philtrum, Malar flattening, Dermal translucency, Downt... ORPHA:3455
Charge Syndrome
Cleft palate, Cleft upper lip, Hypoplasia of the zygomatic bone, Delayed eruption of teeth, Abnor... ORPHA:138
Sponastrime Dysplasia
Delayed eruption of permanent teeth, Microdontia, Hypoplasia of the nasal bone, Mandibular progna... ORPHA:93357
Lacrimoauriculodentodigital Syndrome
Carious teeth, Conical incisor, Hypodontia, Aplasia of the parotid gland, Absence of Stensen duct... OMIM:149730
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Micrognathia, High palate, Hypodontia, Talon cusp, Supernumerary tooth, Narrow pal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Micrognathia, High palate, Hypodontia, Talon cusp, Supernumerary tooth, Narrow pal... ORPHA:353277
Cornelia De Lange Syndrome
Widely spaced teeth, Micrognathia, Cleft palate, High palate, Long philtrum, Thin vermilion borde... ORPHA:199
Genitopatellar Syndrome
Micrognathia, Delayed eruption of teeth OMIM:606170
Mowat-Wilson Syndrome
Widely spaced teeth, Cleft palate, Tooth malposition, Drooling, Delayed eruption of teeth, Submuc... OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Thick lower lip vermilion, Cleft palate, Short philtrum, Mandibular prognathia, Tooth malposition... ORPHA:261537
Mowat-Wilson Syndrome
Widely spaced teeth, Thick lower lip vermilion, Cleft palate, Mandibular prognathia, Tooth malpos... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Thick lower lip vermilion, Cleft palate, Short philtrum, Mandibular prognathia, Tooth malposition... ORPHA:261552
Pallister-Hall Syndrome
Cleft palate, Accessory oral frenulum, Microglossia, Bifid uvula, Cleft lip, Natal tooth, Microre... ORPHA:672
Pallister-Killian Syndrome
Micrognathia, Cleft palate, Alveolar ridge overgrowth, Wide mouth, Long philtrum, Macroglossia, B... OMIM:601803
Sotos Syndrome
Abnormality of the dentition, Hypodontia, Delayed eruption of permanent teeth, No permanent denti... ORPHA:821

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 Map3k11

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 Map3k11.

No publications found that use IMPC mice or data for Map3k11.

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MGI Allele Allele Type Produced
Map3k11tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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