Registered for phenotyping at IMPC

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

Gene Summary

Name:
matrix metallopeptidase 20 (enamelysin)
Synonyms:
N/A

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 Mmp20 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mmp20 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529

The table below shows human diseases predicted to be associated to Mmp20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology ORPHA:69087
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79405
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Atrophic scars, Carious teeth OMIM:226700
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, Oral mucosal blisters ORPHA:79402
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia ORPHA:91133
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Trichodental Dysplasia
Conical tooth, Odontodysplasia, Hypodontia OMIM:601453
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp, Increased connective tissue OMIM:226670
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, High palate, Mandibular prognathia, Malar flattening OMIM:600991
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Atypical scarring of skin, Sc... ORPHA:251393
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia of the primary teeth, U-Shaped upper lip... OMIM:234250
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Taurodontism
Taurodontia OMIM:272700
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Ameloonychohypohidrotic Syndrome
Abnormal dental enamel morphology, Marked delay in eruption of permanent teeth OMIM:104570
Lichtenstein Syndrome
Enamel hypoplasia, Carious teeth, Downturned corners of mouth OMIM:246550
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Irregularly spaced teeth, High palate, Thick lower lip vermilion ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia OMIM:226650
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp OMIM:612843
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis ORPHA:3019
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Non-... ORPHA:2919
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Corneodermatoosseous Syndrome
Hypomature dental enamel, Abnormality of the dentition OMIM:122440
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat OMIM:610965
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Microretrognathia, Pierre-Robin sequence, Tooth agenesis,... OMIM:618363
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Microglossia, Dental... OMIM:253250
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth ORPHA:2026
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia OMIM:607626
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Omphalocele OMIM:243150
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short mandibular rami, Prominent frontal sinuses, Antegonial notc... OMIM:170390
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Hypodontia ORPHA:59303
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Persistence of primary teeth, Microdo... OMIM:618727
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita OMIM:226730
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs... OMIM:265900
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Abnormality of the dentition, Microdontia, Retrognathia ORPHA:557003
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90322
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610967
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Selective tooth agenesis, Microdontia, Widely sp... ORPHA:1897
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Self-Improving Dystrophic Epidermolysis Bullosa
Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79411
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G... OMIM:614669
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:3145
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Amelogenesis Imperfecta, Type Ig
Delayed eruption of permanent teeth, Amelogenesis imperfecta, Dagger-shaped pulp calcifications, ... OMIM:204690
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d... ORPHA:1515
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Retrognathia, Increased overbite, High palate, Dental malocclusion,... OMIM:613684
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth ORPHA:166272
Qazi-Markouizos Syndrome
Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, High, narrow palate ORPHA:3010
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth OMIM:616353
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Narrow mouth, Atrophic scars, Flexion contracture, Corneal scarring OMIM:226600
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Oligodontia, Dental crowding, Pierre-Robin sequence, Thick vermilion border, H... OMIM:619184
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Short philtrum, Drooling, Flexion contracture, Wide mouth, Thin upper lip verm... OMIM:619293
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Clef... OMIM:618761
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Umbilical hernia, Inguinal hernia, Hypocalcification of dental ... ORPHA:3134
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormality of the dentition, Abnormal palate morphology ORPHA:3270
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Smooth philtrum, Microgn... OMIM:249620
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Malar flattening OMIM:613849
Seckel Syndrome 1
Enamel hypoplasia, Dental crowding, Selective tooth agenesis, Cleft palate, High palate, Dental m... OMIM:210600
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormality of the dentition ORPHA:2501
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Carious teeth, Flexion contracture, Hypodontia OMIM:612079
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Abnormal dental enamel morphology, Mandibular prognathia, Malar flattening ORPHA:2180
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of the dentition, Supernumerary tooth ORPHA:1264
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth OMIM:277440
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ... ORPHA:2107
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Shagreen patch, Hypodontia ORPHA:1816
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Craniolenticulosutural Dysplasia
Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee... ORPHA:50814
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition ORPHA:1858
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Mandibular prognathia, Natal... OMIM:259775
Oculotrichodysplasia
Carious teeth, Microdontia of primary teeth, Agenesis of permanent teeth, Widely spaced primary t... OMIM:257960
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Hypodontia, Hernia, Microdontia, Micrognathia OMIM:617052
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted lower lip vermilion, Microdontia, Everted upper lip vermilion ORPHA:181
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Hypophosphatasia, Adult
Premature loss of primary teeth, Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis OMIM:146300
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:10
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Hypophosphatasia, Childhood
Premature loss of primary teeth, Carious teeth OMIM:241510
Kilquist Syndrome
Wide mouth, Xerostomia, Mandibular prognathia, Hypoplasia of teeth OMIM:619080
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hypoplasia of teeth, Narrow mouth, Dental crowding, Flexion contracture, Premature loss of teeth,... OMIM:608612
Oslam Syndrome
Carious teeth ORPHA:2760
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Abnormality of the dentition OMIM:610968
Temtamy Syndrome
Long philtrum, Micrognathia, Hypoplasia of teeth, Dental crowding OMIM:218340
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate ORPHA:2728
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Taurodontia, Joint contracture of the 5th finger, Selective too... OMIM:164200
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Cockayne Syndrome Type 1
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90321
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Mandibuloacral Dysplasia
Abnormal tongue morphology, Increased intraabdominal fat, Hypoplasia of teeth, Dental crowding, I... ORPHA:2457
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Microretrognathia,... OMIM:311200
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Inguinal hernia, Umbilical hernia OMIM:312830
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Hypodontia, Cleft palate, Vaginal herni... ORPHA:2916
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Delayed eruption of teeth, Drooling, A... OMIM:619229
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Hypodontia, Solitary median maxillary central incisor, Abnormal ora... ORPHA:952
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed eruption of primary teeth, Narrow palate, Absent frontal sinuses, Hypo... OMIM:119600
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Bilateral cleft lip and palate ORPHA:1997
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Short Syndrome
Abnormal dental enamel morphology, Abnormality of the zygomatic bone, Lipodystrophy, Abnormality ... ORPHA:3163
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border OMIM:601957
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1458
Dysostosis, Stanescu Type
Macroglossia, Carious teeth, Abnormal dental enamel morphology, Abnormal palate morphology, Abnor... ORPHA:1798
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Bilateral cle... ORPHA:3253
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Abnormality of the philtrum, Tooth agenesis, ... ORPHA:2863
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition OMIM:615802
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Corneodermatoosseous Syndrome
Gingivitis, Carious teeth, Abnormal dental enamel morphology ORPHA:3194
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypoplasia of teeth, Dental crowding, Increased adipose tissue around the neck, Flexion contractu... OMIM:248370
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Oligodontia, Short philtrum, Hypoplasia of teeth, Narrow mouth, Downturned corners... ORPHA:391408
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition ORPHA:3238
Cole-Carpenter Syndrome 2
Microretrognathia, High palate, Dentinogenesis imperfecta OMIM:616294
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Microdontia, Supernumerary tooth OMIM:191482
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Arthrogryposis And Ectodermal Dysplasia
Oligodontia, Arthrogryposis multiplex congenita, Abnormal dental enamel morphology, Atypical scar... OMIM:601701
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Wide mouth, Grayish enamel, Abnormality of the ... ORPHA:582
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth ORPHA:457365
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo... ORPHA:3220
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Retrognathia, Abnormal palate morphology, Malar flattening ORPHA:1390
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Odontochondrodysplasia 1
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth OMIM:184260
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Supernumerary tooth, H... ORPHA:2980
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Delayed eruption of permanent teeth, Dentinogenesis imperfecta, Retrognathia, Prem... OMIM:619269
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Recurrent aphthous stomatitis, Stomatitis OMIM:212750
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Mandibular prognathia, Thick vermilion border, Dental malocclusion, ... OMIM:603463
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Retrognathia, Microdontia OMIM:210720
Aplasia Of Lacrimal And Salivary Glands
Xerostomia, Carious teeth OMIM:180920
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi... ORPHA:1071
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Atrophic scars, Scarring, Oral mucosal blisters, Smooth tongue ORPHA:79396
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Mandibular prognathia, Thin upp... ORPHA:439822
Sanjad-Sakati Syndrome
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:2323
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Shagreen patch, Carious teeth, Abnormal palate morphology, Lipoatrophy, Micrognathia ORPHA:2617
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96263
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Carious teeth, Joint contracture of the 5th finger ORPHA:1883
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conical incisor, Max... ORPHA:73223
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening OMIM:608257
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis ORPHA:808
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth OMIM:617337
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Mandibular prognathia, Dental malocclusion, Abnormality of dental morphology ORPHA:2785
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele OMIM:600373
Mucopolysaccharidosis, Type Iva
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ... OMIM:253000
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Inguinal hernia, Micrognathia, Malar flattening OMIM:613848
Frank-Ter Haar Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Short philtrum, Mandibular prognathia, Wide m... ORPHA:137834
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Natal tooth, Hypodontia OMIM:601345
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Short philtrum, Open mouth, Mandibular prognathia, Thick vermilion border, Exa... OMIM:300896
Chronic Mucocutaneous Candidiasis
Abnormal lip morphology, Abnormal dental enamel morphology, Abnormality of the mouth, Cheilitis ORPHA:1334
Mucopolysaccharidosis, Type Ivb
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Inguinal hernia, Widely spaced ... OMIM:253010
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Long philtrum, Dental crowding, Wide mouth, High palate OMIM:618825
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Inguinal hernia, Retrognathia, Hypoplasia of the zygomatic bon... ORPHA:1812
Cherubism
Macular scar, Oligodontia, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Multiple impac... OMIM:118400
Laron Syndrome
Delayed eruption of teeth, Microdontia, Micrognathia, Tooth agenesis ORPHA:633
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis OMIM:150400
Cranioectodermal Dysplasia 3
Widely spaced teeth, Everted lower lip vermilion, Micrognathia, Hypoplasia of teeth OMIM:614099
Cenani-Lenz Syndrome
Short philtrum, Abnormal dental enamel morphology, Hypodontia, High, narrow palate, Malar flattening ORPHA:3258
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Glossop... OMIM:616367
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Abnormality of dental morphology, Abnormal palate morphology, ... ORPHA:85199
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Trichothiodystrophy
Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of subcutaneous fat, Umbilical her... ORPHA:33364
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth OMIM:126550
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Carious teeth, Atrophic scars, Atypical scarring of skin, Keloids, Oral mucosal blisters ORPHA:79410
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Costello Syndrome
Macroglossia, Abnormal dental enamel morphology, Narrow palate, Abnormality of the dentition, Thi... ORPHA:3071
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Everted lower lip vermilion, Anodontia, Hypodontia, Microdontia, High palate, ... OMIM:218330
Craniolenticulosutural Dysplasia
Long philtrum, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth, Wide mouth, Smooth ... OMIM:607812
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Oligodontia, Hypodontia OMIM:614381
Bosma Arhinia Microphthalmia Syndrome
Hypoplasia of teeth, Inguinal hernia, Cleft lip, Cleft palate, High palate, Dental malocclusion, ... OMIM:603457
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, High palate, Microdontia, Mal... OMIM:269300
3M Syndrome
Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve... ORPHA:2616
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Nail-Patella Syndrome
Enamel hypoplasia, Contracture of the distal interphalangeal joint of the fingers, Flexion contra... ORPHA:2614
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Anodontia, Supernumerary tooth, High palate, Dental mal... OMIM:264475
Lelis Syndrome
Carious teeth, Abnormality of the mouth, Mandibular prognathia, Hypodontia, Furrowed tongue ORPHA:140936
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Tooth agenesis, Inguinal hernia, Congenital diaphragma... ORPHA:2063
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial hyperostosis, Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent ... OMIM:218400
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Narrow palate, Everted lower lip vermilion, Abnormality of the... ORPHA:96169
Osteoglosphonic Dysplasia
Inguinal hernia, Micrognathia, Multiple unerupted teeth, Tooth agenesis ORPHA:2645
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Micrognathia, Hypoplasia of the tooth germ, Contracture of the proximal interphalang... ORPHA:293967
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Carious teeth, Abnormality of the dentition, Hypodontia, Abnormal oral... ORPHA:659
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Bra... ORPHA:861
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion OMIM:613680
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Hypoplasia of th... ORPHA:1110
Immunodeficiency 49
Micrognathia, Short philtrum, Natal tooth, Umbilical hernia OMIM:617237
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth OMIM:259710
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology ORPHA:251004
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Inguinal hernia, Failure of eruption of permanent teeth, Cleft palate OMIM:272460
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Lipoatrophy, Micrognathia, Hypoplasia of the ma... OMIM:601812
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of the maxilla OMIM:614188
Sotos Syndrome 2
Everted lower lip vermilion, Mandibular prognathia, Advanced eruption of teeth, Narrow mouth OMIM:614753
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,... ORPHA:2909
Crisponi/Cold-Induced Sweating Syndrome 1
Long philtrum, Carious teeth, Narrow mouth, Camptodactyly, Trismus, High palate, Retrognathia, Mi... OMIM:272430
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Abnormal salivary gland morp... ORPHA:2363
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Flexion contracture of toe, Malar flattening, Kne... OMIM:601559
Pachyonychia Congenita 2
Natal tooth OMIM:167210
Recessive Dystrophic Epidermolysis Bullosa Inversa
Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79409
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Mandibular prognathia, Advanced eruption of teeth OMIM:262190
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Microretro... OMIM:200990
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Agenesis of permanent teeth, Hypoplasia of teeth, Mandibular prognathi... OMIM:268400
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Oculodentodigital Dysplasia
Camptodactyly of finger, Carious teeth, Abnormal dental enamel morphology, Taurodontia, Mandibula... ORPHA:2710
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, Retrognathia OMIM:601552
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Accessory oral frenulum, Tongue nodules, Odontogeni... ORPHA:2750
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Smooth philtrum, High palate, Dental maloc... OMIM:157980
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Short philtrum, Taurodontia, High, narrow palate, Macrodontia ORPHA:3214
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Delayed eruption of primary teeth, Hypodontia, Xerostomia, Abse... OMIM:149730
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Short philtrum, Downturned corners of mouth, Mandibular pro... ORPHA:1299
Cockayne Syndrome Type 3
Enamel hypoplasia, Carious teeth, Flexion contracture ORPHA:90324
Cockayne Syndrome
Enamel hypoplasia, Carious teeth, Delayed eruption of primary teeth, Agenesis of permanent teeth,... ORPHA:191
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth OMIM:612714
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Carious teeth, Abnormal dental enamel morphology, Atypical scarring of s... ORPHA:2908
Acrofacial Dysostosis, Catania Type
Carious teeth, Microretrognathia, Abnormal palate morphology, Smooth philtrum, Abnormality of the... ORPHA:1786
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Tuberous Sclerosis 1
Shagreen patch, Dental enamel pits, Gingival fibromatosis OMIM:191100
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Supernumerary tooth, Abnormality of dental morphology, Tooth agenesis ORPHA:3353
Eec Syndrome
Carious teeth, Abnormal dental enamel morphology, Taurodontia, Tooth agenesis, Oral cleft, Xerost... ORPHA:1896
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Microdontia, Pulp calcification OMIM:606895
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Smooth philtrum, Abnormality of the dentition, Thick upper lip verm... ORPHA:363444
Focal Dermal Hypoplasia
Enamel hypoplasia, Hiatus hernia, Oligodontia, Delayed eruption of teeth, Omphalocele, Umbilical ... OMIM:305600
Focal Dermal Hypoplasia
Open bite, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of dental morp... ORPHA:2092
X-Linked Hypophosphatemia
Cellulitis, Abnormal dentin morphology, Tooth abscess, Odontodysplasia, Enthesitis ORPHA:89936
Sener Syndrome
Natal tooth, Smooth philtrum, Wide mouth, Hypodontia, Umbilical hernia, Inguinal hernia, High pal... OMIM:606156
Eiken Syndrome
Short philtrum, Oligodontia, Persistence of primary teeth, Eruption failure, Multiple impacted te... OMIM:600002
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:221008
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Mandibular prognathia, Femoral hernia, Wide mouth, Thick vermi... ORPHA:2658
Barber-Say Syndrome
Delayed eruption of teeth, Thin vermilion border, Mandibular prognathia, Wide mouth, High palate,... OMIM:209885
Hypophosphatemic Rickets
Periapical tooth abscess, Tooth abscess, Craniofacial osteosclerosis, Craniofacial asymmetry, Odo... ORPHA:437
Cockayne Syndrome A
Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Atypical scarring of skin,... OMIM:216400
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology ORPHA:79404
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Talon cusp, Narrow palate, Narrow mouth, Dental crowding, Flexion contracture,... OMIM:180849
Incontinentia Pigmenti
Camptodactyly of finger, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormalit... ORPHA:464
Distal Trisomy 5Q
Long philtrum, Thin vermilion border, Carious teeth, Narrow mouth, Hernia, Micrognathia ORPHA:96097
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Joint contracture of the hand OMIM:309000
Cockayne Syndrome B
Delayed eruption of primary teeth, Carious teeth, Hypoplasia of teeth, Atypical scarring of skin,... OMIM:133540
Stickler Syndrome
Open bite, Long philtrum, Abnormal dental enamel morphology, Macroglossia, Tooth agenesis, Glosso... ORPHA:828
Oculocerebrorenal Syndrome Of Lowe
Open bite, Carious teeth, Abnormal dental enamel morphology, Narrow palate, Open mouth, Dental cr... ORPHA:534
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology ORPHA:79430
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Carious teeth, Atrophic scars, Dentinogenesis imperfecta, Multiple joint contractu... ORPHA:536467
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Mandibular prognathia, ... ORPHA:2769
Familial Adenomatous Polyposis 1
Carious teeth, Abnormality of the dentition, Keloids, Multiple lipomas, Eruption failure, Supernu... OMIM:175100
Smith-Lemli-Opitz Syndrome
Long philtrum, Abnormal dental enamel morphology, Abnormality of dental morphology, Wide mouth, T... ORPHA:818
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Carious teeth, Microdontia OMIM:224230
Singleton-Merten Syndrome 1
Carious teeth, Hypoplasia of the tooth germ, Smooth philtrum, Eruption failure, Hypoplasia of the... OMIM:182250
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Supernumerary tooth... ORPHA:733
Osteogenesis Imperfecta
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Delayed eruption o... ORPHA:666
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Mandibular prognathia, Dental ... OMIM:211380
Tetrasomy 9P
Median cleft lip and palate, Abnormal dental enamel morphology, Amelogenesis imperfecta, Short ph... ORPHA:3310
Proximal Renal Tubular Acidosis
Enamel hypomineralization ORPHA:47159
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate OMIM:266270
Microphthalmia With Linear Skin Defects Syndrome
Mandibular aplasia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Retrognat... ORPHA:2556
22Q11.2 Deletion Syndrome
Long philtrum, Carious teeth, Short philtrum, Abnormal dental enamel morphology, Narrow mouth, Ab... ORPHA:567
Kindler Syndrome
Oral leukoplakia, Gingivitis, Carious teeth, Periodontitis OMIM:173650
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Abnormal tongue morphology, Chapped lip, Abnormality of dental morphology, Scarrin... ORPHA:158668
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Omphalocele, Cheilitis, Inguinal hernia ORPHA:2273
Williams Syndrome
Open bite, Long philtrum, Carious teeth, Abnormal dental enamel morphology, Macroglossia, Abnorma... ORPHA:904
Proteus Syndrome
Abnormal dental enamel morphology, Carious teeth, Abnormal subcutaneous fat tissue distribution, ... ORPHA:744
Johanson-Blizzard Syndrome
Agenesis of permanent teeth, Hypoplasia of the primary teeth OMIM:243800

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 Mmp20

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 Mmp20.

No publications found that use IMPC mice or data for Mmp20.

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MGI Allele Allele Type Produced
Mmp20em1(IMPC)Ccpcz Exon Deletion Mice
Mmp20tm208731(L1L2_Bact_P) Targeting vectors

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