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Gene: Map3k11 MGI:1346880

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

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 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
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Anonychia With Flexural Pigmentation
Carious teeth, Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Steatocystoma Multiplex
Natal tooth OMIM:184500
Shaheen Syndrome
Palmoplantar hyperkeratosis, Carious teeth, Enamel hypoplasia OMIM:615328
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
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, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Oral mucosal blisters, Hypodontia, Enamel hypoplasia, Plantar hyperkeratosis OMIM:226650
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Palmoplantar keratoderma, Premature loss of teeth OMIM:161000
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi... ORPHA:3019
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Hyperkeratosis OMIM:616029
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth, Dry skin ORPHA:248
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... OMIM:618761
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
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
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Dermatitis Herpetiformis
Dental enamel pits, Erythema, Delayed eruption of teeth, Erosion of oral mucosa, Skin vesicle ORPHA:1656
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth, Dry skin OMIM:614450
Taurodontism
Taurodontia OMIM:272700
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... OMIM:618342
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption OMIM:606893
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Abnormality of the philtrum, High palate... ORPHA:2863
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Palmoplantar hyperkeratosis, Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... ORPHA:952
Pachyonychia Congenita
Natal tooth, Oral leukoplakia, Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses ... ORPHA:2309
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border OMIM:618506
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... ORPHA:1897
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Natal tooth, Short philtrum, Cleft palate OMIM:617337
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Pachyonychia Congenita 2
Subungual hyperkeratosis, Natal tooth, Oral leukoplakia, Angular cheilitis, Palmoplantar hyperker... OMIM:167210
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth OMIM:618825
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration... ORPHA:69087
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia, Dry skin OMIM:262190
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Thick vermilion border, Sh... ORPHA:137834
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Purpura ORPHA:375
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth OMIM:619356
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate OMIM:613849
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ... ORPHA:1327
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Pycnodysostosis
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... OMIM:265800
Laron Syndrome
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia ORPHA:633
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... ORPHA:10
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion OMIM:619797
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ... ORPHA:420561
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ... ORPHA:1133
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, High... OMIM:614607
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Erythema, Carious teeth, Palmoplan... ORPHA:659
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border... OMIM:616354
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Carious teeth, Skin vesicle, Oral mucosal blisters ORPHA:79410
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Palmoplantar keratoderma, Carious teeth, Enamel hypoplasia OMIM:612843
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
Coffin-Siris Syndrome 3
Long philtrum, Delayed eruption of permanent teeth, Thick vermilion border, Macroglossia, High pa... OMIM:614608
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel... ORPHA:2980
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia OMIM:226700
Char Syndrome
Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev... ORPHA:46627
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon... OMIM:269300
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... ORPHA:2107
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Natal tooth OMIM:609638
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, High palate OMIM:612350
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil... ORPHA:2063
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Submuc... ORPHA:2712
Cerebrooculofacioskeletal Syndrome 1
Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Thin vermilion border OMIM:214150
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos... OMIM:218400
Bent Bone Dysplasia Syndrome 1
Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth OMIM:614592
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Natal tooth, Oligodontia OMIM:601345
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, ... ORPHA:3353
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... ORPHA:1452
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormality of the dentition, Skin ulcer, Delayed eruption of teeth, Skin vesicle, Gingivitis, Cl... ORPHA:2314
Osteoglosphonic Dysplasia
Multiple unerupted teeth, Micrognathia, Tooth agenesis ORPHA:2645
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Three M Syndrome 2
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ... OMIM:612921
Eiken Syndrome
Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet... OMIM:600002
Recon Progeroid Syndrome
Dental crowding, Dry skin, Prominence of the premaxilla, Smooth philtrum, Scaling skin, Thin verm... OMIM:620370
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Delayed eruption of teeth, T... ORPHA:192
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:1782
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia OMIM:614381
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Palmoplantar keratoderma, Delayed eruption of teeth, Widely spaced teeth, Abnormal... ORPHA:1071
Immunodeficiency 49
Cutis laxa, Short philtrum, Micrognathia, Natal tooth OMIM:617237
Codas Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth ORPHA:1458
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo... OMIM:619322
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth OMIM:617105
Lelis Syndrome
Carious teeth, Furrowed tongue, Hypodontia, Palmoplantar hyperkeratosis, Mandibular prognathia ORPHA:140936
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Delayed eruption of teeth, Oligodontia ORPHA:447896
Hypophosphatasia, Adult
Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth OMIM:146300
Osteopetrosis, Autosomal Recessive 2
Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis OMIM:259710
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia, Skin ulcer OMIM:245660
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced eruption of teeth, Everted... OMIM:617865
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ... ORPHA:90322
Emanuel Syndrome
Broad jaw, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Delayed eruption... ORPHA:96170
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Malar flattening, Protruding tongue, Everted lower lip... OMIM:610253
Trisomy 9P
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth ORPHA:236
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Supernumerary tooth, Persistence of primary teeth OMIM:619752
Short Syndrome
Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Premature skin wrink... OMIM:269880
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro... OMIM:190350
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum OMIM:184260
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, M... ORPHA:2780
Oslam Syndrome
Carious teeth ORPHA:2760
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Corneodermatoosseous Syndrome
Erythema, Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Gingivitis ORPHA:3194
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Malar flattenin... OMIM:607812
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Micrognathia, Natal tooth OMIM:616901
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
Chromosome 13Q33-Q34 Deletion Syndrome
Cleft lip, Delayed eruption of teeth, Micrognathia, Open mouth, Irregular dentition, Gingival ove... OMIM:619148
Lacrimoauriculodentodigital Syndrome 2
Hypodontia, Conical tooth, Carious teeth, Microdontia OMIM:620192
Smith-Magenis Syndrome
Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar... ORPHA:819
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... ORPHA:37553
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Thick vermilion border, Open mouth, Everted lower lip vermilion, High ... OMIM:615866
Teebi Hypertelorism Syndrome 1
Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper lip vermilion OMIM:145420
Trichothiodystrophy 3, Photosensitive
Eclabion, Carious teeth, Natal tooth OMIM:616395
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Micrognathia, Natal tooth OMIM:617802
Barber-Say Syndrome
Redundant skin, Wide mouth, Delayed eruption of teeth ORPHA:1231
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, Narrow mouth, Exaggerat... ORPHA:2215
Lethal Acantholytic Erosive Disorder
Acantholysis, Natal tooth, Cleft palate ORPHA:158687
Rothmund-Thomson Syndrome
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... ORPHA:2909
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Delayed eruption of teeth ORPHA:73272
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Micrognathia, Oligodontia, Abse... OMIM:224300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Dental crowding OMIM:619769
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Micrognathia, Delayed eruption of teeth ORPHA:2484
Incontinentia Pigmenti
Erythema, Conical tooth, Delayed eruption of teeth, Pallor, Oligodontia, Hypodontia, Hyperkeratosis OMIM:308300
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Long philtrum ORPHA:263463
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Retrognathia, Long philtrum, Micrognathia, Abnormality of dental eruption, E... ORPHA:96092
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, D... OMIM:234100
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Short philtrum, Micrognathia, Cleft palate ORPHA:949
Ellis-Van Creveld Syndrome
Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Abnormal alveolar ridge morp... OMIM:225500
Emanuel Syndrome
Broad jaw, Dental crowding, Long philtrum, Micrognathia, Recurrent sinusitis, Delayed eruption of... OMIM:609029
Acrodysostosis
Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Mandibular prognathia ORPHA:950
Johanson-Blizzard Syndrome
Abnormality of the dentition, Microdontia, Delayed eruption of teeth, Oligodontia ORPHA:2315
3M Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... ORPHA:2616
Kleefstra Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip vermilion, Malar flatten... ORPHA:261494
Frontometaphyseal Dysplasia 1
Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary ... OMIM:305620
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... OMIM:211380
Incontinentia Pigmenti
Erythema, Delayed eruption of teeth, Skin ulcer, Abnormal dental enamel morphology, Abnormal dent... ORPHA:464
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Gapo Syndrome
Delayed eruption of teeth, Long philtrum, Micrognathia, Abnormal palate morphology, Everted lower... ORPHA:2067
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Narrow philtrum... OMIM:601812
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Malar flatteni... OMIM:259775
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Hyperkeratosis, Delayed eruption of teeth OMIM:266270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Hig... ORPHA:476126
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... OMIM:619269
Rothmund-Thomson Syndrome Type 2
Abnormality of the dentition, Erythema, Carious teeth, Delayed eruption of teeth, Tooth agenesis,... ORPHA:221016
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Natal tooth, Gingival overgrowth, Narrow mouth, Malar flattening, Red... OMIM:123790
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Retrognathia, Gingival overgrowth, Narrow mouth, Malar flattening, Oli... OMIM:235510
Kabuki Syndrome 2
Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Hypodontia, High palate, Cleft palate OMIM:300867
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Furrowed tongue, Dry skin, Gingival overgrowth, Ad... ORPHA:769
De Barsy Syndrome
Delayed eruption of teeth, Narrow mouth, Excessive wrinkled skin, Small, conical teeth, Cutis lax... ORPHA:2962
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of the dentition, Carious teeth, Palmoplantar keratoderma, Chapped lip, Abnormal tong... ORPHA:158668
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Natal tooth, Thick lower lip vermilion ORPHA:261652
Sotos Syndrome
High, narrow palate, Narrow jaw, Advanced eruption of teeth, High palate, Narrow palate, Mandibul... OMIM:117550
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor... ORPHA:2769
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw ORPHA:199276
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221008
Mucopolysaccharidosis, Type Ii
Macroglossia, Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion OMIM:309900
Carpenter Syndrome 1
Hypoplasia of the maxilla, Agenesis of permanent teeth, Persistence of primary teeth, Micrognathi... OMIM:201000
Microphthalmia, Lenz Type
Abnormality of the dentition, Orofacial cleft, Delayed eruption of teeth, Abnormal dental morphology ORPHA:568
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal... OMIM:311300
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Narrow palate, Mandibular prog... ORPHA:87
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... OMIM:119600
Cockayne Syndrome Type 1
Abnormality of the dentition, Widely spaced primary teeth, Hypoplasia of the primary teeth, Delay... ORPHA:90321
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Mandibular... OMIM:101800
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Micr... OMIM:268400
Gapo Syndrome
High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia, Re... OMIM:230740
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Cleft lip, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Dry skin, O... OMIM:280000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Dry skin, Gingival overgrowth, Delayed eruption of teeth ORPHA:508542
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Microdo... ORPHA:289
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Tented upper lip vermilion, Short philtrum, Mandibular prognathia, Delayed eruption of permanent ... ORPHA:521445
Genitopatellar Syndrome
Micrognathia, Delayed eruption of teeth, Long philtrum ORPHA:85201
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, T... ORPHA:534
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Incompl... OMIM:616300
Hennekam Syndrome
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Abnorma... ORPHA:2136
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... OMIM:180700
Familial Adenomatous Polyposis 1
Carious teeth, Odontoma, Eruption failure, Supernumerary tooth OMIM:175100
Robinow Syndrome
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc... ORPHA:97360
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho... ORPHA:369950
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Natal tooth, Micrognathia, Narrow mouth, Malar... ORPHA:2108
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Natal tooth, Craniofacial osteosclerosis, Dental malocclusion, Dental crowding, Clef... OMIM:300373
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Agenesis of permanent tee... OMIM:223370
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Gin... OMIM:135500
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl... OMIM:300990
Fgfr2-Related Bent Bone Dysplasia
Micrognathia, Natal tooth, Gingival overgrowth ORPHA:313855
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia, Thin upper lip vermilion, Cle... OMIM:247200
Dubowitz Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Dry skin, Micrognathia, Submucous cleft ... ORPHA:235
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Malar flattening, Narrow palate, Man... OMIM:101200
Robinow Syndrome, Autosomal Recessive 1
Narrow palate, Microglossia, Dental crowding, Retrognathia, Downturned corners of mouth, Long phi... OMIM:268310
Lead Poisoning
Delayed eruption of teeth ORPHA:330015
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Narrow mouth, Orofacial cleft, Odontogenic keratocysts ... ORPHA:77301
Spondyloenchondrodysplasia
Dental malocclusion, Delayed eruption of teeth ORPHA:1855
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Osteoglophonic Dysplasia
Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum, Malar flat... OMIM:166250
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth, Gingival overgrowth OMIM:259600
Cornelia De Lange Syndrome 1
High, narrow palate, Downturned corners of mouth, Cleft upper lip, Widely spaced teeth, Long phil... OMIM:122470
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Micrognathia, Median cleft palate, Median cleft upper lip... OMIM:612651
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridge overgrowth, M... OMIM:301072
Intellectual Developmental Disorder, Autosomal Dominant 54
Dry skin, Widely spaced teeth, Dental crowding, Delayed eruption of primary teeth OMIM:617799
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Carious teeth, Long philtrum, Widely spaced teeth, Thick lower lip vermilion... OMIM:615873
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High palate ORPHA:1675
Wrinkly Skin Syndrome
Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Redundant skin, Neona... OMIM:278250
Stickler Syndrome
Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b... ORPHA:828
Wrinkly Skin Syndrome
Carious teeth, Delayed eruption of teeth, Long philtrum, Excessive wrinkled skin, Smooth philtrum... ORPHA:2834
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flattening ORPHA:50945
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia ORPHA:280365
Restrictive Dermopathy
Natal tooth, Generalized hyperkeratosis, Temporomandibular joint ankylosis, Micrognathia, Narrow ... ORPHA:1662
Smith-Lemli-Opitz Syndrome
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... ORPHA:818
Cockayne Syndrome A
Carious teeth, Dental malocclusion, Dry skin, Delayed eruption of primary teeth, Enamel hypoplasi... OMIM:216400
Pitt-Hopkins Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Abnormal palate morphology, Thick verm... ORPHA:2896
Opitz Gbbb Syndrome
Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Micrognathia, Hypodontia, High palate, Clef... ORPHA:2745
Gardner Syndrome
Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma ORPHA:79665
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Persist... ORPHA:2785
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth OMIM:300952
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Retrognathia, Delayed eruption of teeth, Premature skin wrinkling, Impacted toot... ORPHA:740
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth OMIM:600373
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Micrognathia, Obtuse angle of mandible, Cleft palate OMIM:309350
Mucopolysaccharidosis, Type Vi
Macroglossia, Carious teeth, Delayed eruption of teeth OMIM:253200
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Calvarial osteosclerosis ORPHA:93325
Cockayne Syndrome B
Carious teeth, Dental malocclusion, Dry skin, Delayed eruption of primary teeth, Hypoplasia of te... OMIM:133540
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Median cleft palate, Median cleft upper lip, Lobulated tongue OMIM:269860
Microphthalmia, Syndromic 2
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar... OMIM:300166
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ... OMIM:614188
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth ORPHA:2036
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... ORPHA:666
Restrictive Dermopathy 1
Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous cleft hard ... OMIM:275210
Autosomal Recessive Malignant Osteopetrosis
Premature loss of primary teeth, Pallor, Delayed eruption of teeth ORPHA:667
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume... ORPHA:733
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft palate OMIM:617925
Adnp Syndrome
Thin upper lip vermilion, Smooth philtrum, Advanced eruption of teeth, Thick lower lip vermilion ORPHA:404448
Wiedemann-Rautenstrauch Syndrome
Hypoplastic facial bones, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed erupti... OMIM:264090
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Mandibular prognathia, Dental crowding, Downturned corners of mouth, Delayed eruption o... OMIM:619503
Coffin-Siris Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Thin upper lip vermilion, Broad philtrum, W... ORPHA:1465
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Downturned corners of mouth, Branchial cyst, Ankylogloss... OMIM:620186
Autosomal Recessive Hypophosphatemic Rickets
Tooth abscess, Delayed eruption of teeth ORPHA:289176
Shwachman-Diamond Syndrome
Carious teeth, Delayed eruption of teeth, Oral ulcer, Sinusitis ORPHA:811
Doors Syndrome
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ... ORPHA:79500
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Micrognathia, Bifid tongue, Super... OMIM:615948
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Advanced eruption of teeth, Orofacial cleft, Everted lower lip vermilion, Thin ver... ORPHA:1519
Pallister-Hall Syndrome
Cleft upper lip, Microglossia, Natal tooth, Cleft palate OMIM:146510
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Cleft palate, Enamel hypoplasia OMIM:272460
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Periodontitis, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth ORPHA:79259
Schinzel-Giedion Syndrome
Macroglossia, Retrognathia, Delayed eruption of teeth, Micrognathia, Short philtrum, Abnormality ... ORPHA:798
Cockayne Syndrome
Carious teeth, Dental malocclusion, Premature skin wrinkling, Agenesis of permanent teeth, Abnorm... ORPHA:191
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Hypodontia, Talon cusp, Narrow ... ORPHA:353281
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Camurati-Engelmann Disease
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth ORPHA:1328
Meckel Syndrome, Type 1
Natal tooth, Cleft upper lip, Micrognathia, Thin upper lip vermilion, Smooth philtrum, Wide mouth... OMIM:249000
Coffin-Siris Syndrome 1
Conical tooth, Retrognathia, Long philtrum, Thick lower lip vermilion, Delayed eruption of teeth,... OMIM:135900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Microdontia, High palate OMIM:143095
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... OMIM:182250
Wiedemann-Rautenstrauch Syndrome
Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Retrognathia, Premature s... ORPHA:3455
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Hy... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Hy... ORPHA:353277
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Oligodontia, Hypodontia, Enamel ... OMIM:305600
Charge Syndrome
Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed eruption of teeth, Narrow mouth, Abnor... ORPHA:138
Cornelia De Lange Syndrome
Downturned corners of mouth, Long philtrum, Widely spaced teeth, Delayed eruption of teeth, Micro... ORPHA:199
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth, Oligodontia, Microdontia,... ORPHA:2044
Sponastrime Dysplasia
Mandibular prognathia, Microdontia, Hypoplasia of the dental root, Hypoplasia of the nasal bone, ... ORPHA:93357
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, High palate, Persistence of primary teeth OMIM:147060
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Microdontia, Delayed eruption of primary teeth, Absence of Stensen duct, Hypodonti... OMIM:149730
Mowat-Wilson Syndrome
Tooth malposition, Delayed eruption of teeth, Widely spaced teeth, Submucous cleft hard palate, C... OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:261537
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Microretrognathia, Natal tooth, Microglossia, Cleft palate, Accessory ora... ORPHA:672
Mowat-Wilson Syndrome
Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid uvula, Abnormal jaw morphology, Tooth malposition, Dental crowding, Submucous cleft of soft... ORPHA:261552
Genitopatellar Syndrome
Micrognathia, Delayed eruption of teeth OMIM:606170
Pallister-Killian Syndrome
Bifid uvula, Delayed eruption of teeth, Long philtrum, Micrognathia, Tented upper lip vermilion, ... OMIM:601803
Sotos Syndrome
Abnormality of the dentition, Hypodontia, Delayed eruption of permanent teeth, Agenesis of perman... 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.

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

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