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
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition 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, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Anonychia With Flexural Pigmentation
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis ORPHA:69125
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis OMIM:615328
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth, Palmoplantar keratoderma OMIM:161000
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Dry skin, Marked delay in eruption of permanent teeth, Yellow... OMIM:104570
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
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
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin, Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth ORPHA:248
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... OMIM:618761
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Hyperkeratosis, Palmoplantar keratoderma, Hypodontia, Enamel hypoplasia OMIM:616029
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Palmoplantar keratoderma, Hypodontia ORPHA:1816
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... 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
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Dry skin OMIM:614450
Taurodontism
Taurodontia OMIM:272700
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... OMIM:618342
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion ORPHA:181
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate... ORPHA:2863
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... ORPHA:952
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow OMIM:618506
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop... ORPHA:2309
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Eem Syndrome
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... ORPHA:1897
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border, Palmoplantar hyperkeratosis ORPHA:363523
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... OMIM:619736
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... OMIM:613849
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Subungual hyperkeratosis, Cleft palate, Short philtrum, Orthokeratosis OMIM:617337
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Pachyonychia Congenita 2
Natal tooth, Subungual hyperkeratosis, Angular cheilitis, Palmoplantar hyperkeratosis, Oral leuko... OMIM:167210
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Abnormal dental morphology, Abnormality of the dentition, Carious teeth... ORPHA:69087
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum OMIM:618825
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Advanced eruption of teeth, Dry skin, High palate OMIM:262190
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum... ORPHA:137834
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ... ORPHA:659
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, High palate, Persistence of primary teeth OMIM:147060
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth OMIM:619356
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Anti-Glomerular Basement Membrane Disease
Purpura, Persistence of primary teeth ORPHA:375
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
Pycnodysostosis
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... OMIM:265800
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... ORPHA:1327
Laron Syndrome
Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia ORPHA:633
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth OMIM:619797
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... ORPHA:10
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... ORPHA:420561
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo... OMIM:616354
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth... ORPHA:1133
Odontochondrodysplasia
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta ORPHA:166272
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... OMIM:614607
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
4H Leukodystrophy
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition ORPHA:289494
Char Syndrome
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... ORPHA:46627
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Enamel hypoplasia, Palmoplantar keratoderma, Facial erythema OMIM:612843
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Acrootoocular Syndrome
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... ORPHA:2980
Coffin-Siris Syndrome 3
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord... OMIM:614608
Aarskog-Scott Syndrome
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... ORPHA:915
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia OMIM:226700
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... OMIM:269300
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... OMIM:218400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula OMIM:612350
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Acantholysis OMIM:609638
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... OMIM:157980
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... ORPHA:2063
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Redundant skin, Micrognathia, Hypoplasia of the... OMIM:209885
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... ORPHA:2712
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Thin vermilion border, Long philtrum OMIM:214150
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo... ORPHA:3353
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Bent Bone Dysplasia Syndrome 1
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia OMIM:614592
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Hyperkeratosis ORPHA:1883
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Osteoglosphonic Dysplasia
Tooth agenesis, Multiple unerupted teeth, Micrognathia ORPHA:2645
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... OMIM:618727
Three M Syndrome 2
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... OMIM:612921
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... OMIM:620370
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Skin ulcer, Sk... ORPHA:2314
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Redundant skin,... ORPHA:192
Eiken Syndrome
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... OMIM:600002
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia OMIM:614381
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology ORPHA:1782
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... OMIM:190350
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... OMIM:170390
Codas Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1458
Immunodeficiency 49
Natal tooth, Short philtrum, Cutis laxa, Micrognathia OMIM:617237
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... ORPHA:1071
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth OMIM:617105
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth OMIM:259710
Hypophosphatasia, Adult
Carious teeth, Premature loss of permanent teeth, Premature loss of primary teeth OMIM:146300
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta OMIM:245660
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Hypodontia ORPHA:447896
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... OMIM:617865
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo... OMIM:619322
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... ORPHA:2563
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia... ORPHA:90322
Lelis Syndrome
Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia ORPHA:140936
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia... OMIM:610253
Short Syndrome
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo... OMIM:269880
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96263
Trisomy 9P
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth ORPHA:236
Rapp-Hodgkin Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... OMIM:129400
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Redundant neck skin, Dental crowding, Micrognathia, Submuco... ORPHA:96170
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth OMIM:619752
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2780
Oslam Syndrome
Carious teeth ORPHA:2760
Odontochondrodysplasia 1
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum OMIM:184260
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96264
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth ORPHA:950
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Erythema, Gingivitis, Palmoplantar keratoderma ORPHA:3194
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... OMIM:607812
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... OMIM:619229
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia OMIM:616901
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Plantar hyperkeratosis, Abnormal dental enamel morphology, Selective t... ORPHA:2909
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... OMIM:619148
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... ORPHA:819
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Eclabion OMIM:616395
Barber-Say Syndrome
Delayed eruption of teeth, Wide mouth, Redundant skin ORPHA:1231
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... OMIM:224300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Micrognathia OMIM:617802
Lacrimoauriculodentodigital Syndrome 2
Carious teeth, Microdontia, Hypodontia, Conical tooth OMIM:620192
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum OMIM:145420
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... OMIM:615866
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia OMIM:612462
Multiple Pterygium-Malignant Hyperthermia Syndrome
Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor... ORPHA:2215
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Micrognathia ORPHA:73272
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Lethal Acantholytic Erosive Disorder
Natal tooth, Cleft palate, Acantholysis ORPHA:158687
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth OMIM:619769
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia ORPHA:2484
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth OMIM:277440
Incontinentia Pigmenti
Delayed eruption of teeth, Conical tooth, Erythema, Hyperkeratosis, Oligodontia, Hypodontia, Pallor OMIM:308300
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Long philtrum ORPHA:263463
8P Inverted Duplication/Deletion Syndrome
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip ... ORPHA:96092
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... OMIM:234100
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... OMIM:225500
Emanuel Syndrome
Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p... OMIM:609029
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia ORPHA:949
Johanson-Blizzard Syndrome
Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2315
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Plantar hyperkeratosis, Abnormal dental enamel morphology, Abnormality... ORPHA:221016
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... OMIM:305620
3M Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... ORPHA:2616
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long... ORPHA:2067
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Erythem... ORPHA:464
Ramon Syndrome
Delayed eruption of teeth, Hyperkeratosis, Gingival fibromatosis, Narrow palate OMIM:266270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ... ORPHA:476126
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Palmoplantar... OMIM:601812
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... OMIM:259775
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Redundant neck skin, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, ... OMIM:123790
Kabuki Syndrome 2
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia OMIM:300867
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... ORPHA:769
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Narr... OMIM:235510
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Plantar hyperkeratosis, Abnormal dental enamel morphology, Abnormality... ORPHA:221008
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, High palate, Advanced erup... OMIM:117550
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... ORPHA:2769
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin... OMIM:619269
De Barsy Syndrome
Delayed eruption of teeth, Narrow mouth, Cutis laxa, Excessive wrinkled skin, High palate, Small,... ORPHA:2962
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw ORPHA:199276
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Thick lower lip vermilion, Abnormality of the dentition ORPHA:261652
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m... OMIM:311300
Carpenter Syndrome 1
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet... OMIM:201000
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal dental morphology, Orofacial cleft, Abnormality of the dentition ORPHA:568
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... ORPHA:87
Cleidocranial Dysplasia 1
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... OMIM:119600
Cockayne Syndrome Type 1
Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely sp... ORPHA:90321
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Thick lower lip vermilion, Widely spaced teeth OMIM:309900
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... OMIM:268400
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... OMIM:101800
Gapo Syndrome
Redundant skin, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, L... OMIM:230740
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... ORPHA:289
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... ORPHA:534
Genitopatellar Syndrome
Delayed eruption of teeth, Long philtrum, Micrognathia ORPHA:85201
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... ORPHA:521445
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cleft palate, Palmoplantar hyper... OMIM:280000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Dry skin, Gingival overgrowth ORPHA:508542
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p... OMIM:616300
Familial Adenomatous Polyposis 1
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma OMIM:175100
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic... OMIM:180700
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Supernume... ORPHA:2136
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... ORPHA:2108
Robinow Syndrome
Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr... ORPHA:97360
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia ORPHA:289157
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... OMIM:300373
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... OMIM:300990
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Dubowitz Syndrome
Delayed eruption of teeth, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Submucous c... OMIM:223370
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow... OMIM:135500
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Thick upper lip ... OMIM:247200
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Dubowitz Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Micrognathia, Submucous cleft hard palat... ORPHA:235
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat... OMIM:101200
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Gingival overgrowth, Micrognathia ORPHA:313855
Spondyloenchondrodysplasia
Delayed eruption of teeth, Dental malocclusion ORPHA:1855
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Lon... ORPHA:77301
Lead Poisoning
Delayed eruption of teeth ORPHA:330015
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, M... OMIM:301072
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue... OMIM:268310
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia OMIM:259600
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ... OMIM:122470
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... OMIM:612651
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi... OMIM:166250
Intellectual Developmental Disorder, Autosomal Dominant 54
Dry skin, Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth OMIM:617799
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia ORPHA:1675
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Wide mou... OMIM:615873
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Redundant skin, Carious teeth, Palmoplantar cutis l... OMIM:278250
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening ORPHA:50945
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... ORPHA:828
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia ORPHA:280365
Restrictive Dermopathy
Natal tooth, Micrognathia, Epidermal hyperkeratosis, Submucous cleft hard palate, Temporomandibul... ORPHA:1662
Wrinkly Skin Syndrome
Delayed eruption of teeth, Carious teeth, Excessive skin wrinkling on dorsum of hands and fingers... ORPHA:2834
Pitt-Hopkins Syndrome
Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permanent teeth, Tooth... ORPHA:2896
Smith-Lemli-Opitz Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,... ORPHA:818
Osteopetrosis With Renal Tubular Acidosis
Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili... ORPHA:2785
Gardner Syndrome
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition ORPHA:79665
Cockayne Syndrome A
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... OMIM:216400
Opitz Gbbb Syndrome
Natal tooth, Micrognathia, Cleft lip, Cleft palate, High palate, Hypodontia, Long philtrum, Ankyl... ORPHA:2745
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth OMIM:300952
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... ORPHA:740
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Tooth malposition OMIM:309350
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth ORPHA:93325
Codas Syndrome
Delayed eruption of teeth, Enamel hypoplasia OMIM:600373
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Hamartoma of tongue, Lobulated tongue, Median cleft lip and palate OMIM:269860
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Macroglossia, Carious teeth OMIM:253200
Cockayne Syndrome B
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... OMIM:133540
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Pallor, Premature loss of primary teeth ORPHA:667
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Abnormality of the dentition ORPHA:2036
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... OMIM:300166
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg... ORPHA:666
Familial Adenomatous Polyposis
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... ORPHA:733
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Epidermal hyperkeratosis, Submucous cleft hard palate, Temporomandibul... OMIM:275210
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Enamel hypoplasia ORPHA:79444
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate OMIM:617925
Adnp Syndrome
Advanced eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Smooth philtrum ORPHA:404448
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Micrognathia, Hypoplastic facial bones, Downturned corner... OMIM:264090
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Broad... ORPHA:1465
Pallister-Hall Syndrome
Natal tooth, Microglossia, Cleft palate, Cleft upper lip OMIM:146510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co... OMIM:620186
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Clef... OMIM:619503
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer ORPHA:811
Doors Syndrome
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... ORPHA:79500
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... OMIM:615948
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... ORPHA:1519
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate OMIM:272460
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Tooth abscess ORPHA:289176
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Micrognathia, Abnormality of the gingiva, Wide mouth, Macroglossia, Sh... ORPHA:798
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Enamel hypoplasia ORPHA:79443
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth, Periodontitis ORPHA:79259
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion... ORPHA:353281
Cockayne Syndrome
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion... ORPHA:191
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Cleft upper lip, Micrognathia, Cleft palate, Wide mouth, L... OMIM:249000
Camurati-Engelmann Disease
Delayed eruption of teeth, Craniofacial osteosclerosis, Carious teeth ORPHA:1328
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Conical tooth, Thick lower lip vermilion, Cl... OMIM:135900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia OMIM:143095
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... OMIM:182250
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... ORPHA:353277
Charge Syndrome
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl... ORPHA:138
Focal Dermal Hypoplasia
Delayed eruption of teeth, Cleft upper lip, Dental malocclusion, Cleft palate, Oligodontia, Hypod... OMIM:305600
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,... ORPHA:3455
Floating-Harbor Syndrome
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Oligodontia, ... ORPHA:2044
Cornelia De Lange Syndrome
Delayed eruption of teeth, Micrognathia, Cleft palate, Downturned corners of mouth, Thin vermilio... ORPHA:199
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Hypoplasia of the nasal bone, Hypoplasia of the ... ORPHA:93357
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Mowat-Wilson Syndrome
Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ... OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl... ORPHA:261537
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Microglossia, B... ORPHA:672
Mowat-Wilson Syndrome
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl... ORPHA:261552
Genitopatellar Syndrome
Delayed eruption of teeth, Micrognathia OMIM:606170
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Micrognathia, Al... OMIM:601803
Sotos Syndrome
No permanent dentition, Delayed eruption of permanent teeth, Hypodontia, Abnormality of the 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.

Order Mouse and ES Cells

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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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