Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thymus morphology Mmp20em1(IMPC)Ccpcz HOM Early adult 0.00
small seminal vesicle Mmp20em1(IMPC)Ccpcz HOM Early adult 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Mmp20em1(IMPC)Ccpcz HOM Early adult 2.39×10-06
abnormal spleen morphology Mmp20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth color Mmp20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth morphology Mmp20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Mmp20em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lean body mass Mmp20em1(IMPC)Ccpcz HOM Early adult 1.30×10-06
decreased body weight Mmp20em1(IMPC)Ccpcz HOM   Early adult 1.87×10-07
increased prepulse inhibition Mmp20em1(IMPC)Ccpcz HOM Early adult 4.83×10-05
enlarged thymus Mmp20em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lung elastance Mmp20em1(IMPC)Ccpcz HOM Early adult 7.27×10-06

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology 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
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta 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, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta 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, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79406
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia OMIM:226650
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Epidermolysis Bullosa, Junctional 4, Intermediate
Scarring alopecia of scalp, Dental enamel pits, Carious teeth OMIM:619787
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79405
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
17Q11.2 Microduplication Syndrome
Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars ORPHA:79402
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Atrophic scars, Carious teeth OMIM:226700
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Thick vermilion border, Carious teeth ORPHA:363523
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
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
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Trichodental Dysplasia
Odontodysplasia, Conical tooth, Hypodontia OMIM:601453
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening OMIM:600991
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin... ORPHA:251393
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... ORPHA:2325
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Enam... OMIM:234250
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... ORPHA:3352
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Taurodontism
Taurodontia OMIM:272700
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Scarring alopecia of scalp, Increased connective tissue, Carious teeth OMIM:226670
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth OMIM:612843
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Ramon Syndrome
Delayed eruption of teeth, Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology ORPHA:3019
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M... OMIM:618363
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Taurodontia, Pulp calcification OMIM:211900
Mulibrey Nanism
Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,... OMIM:253250
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Corneodermatoosseous Syndrome
Hypomature dental enamel OMIM:122440
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis ORPHA:2026
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia OMIM:607626
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia OMIM:300636
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology ORPHA:59303
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Camptodactyly, Enamel hy... OMIM:619980
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Pyle Disease
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... OMIM:265900
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters, Arthrogryposis multiplex congenita, Atrophic scars OMIM:226730
Oculocerebrodental Syndrome
Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia ORPHA:557003
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Cockayne Syndrome Type 2
Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Flexion contra... ORPHA:90322
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Amelogenesis Imperfecta, Type Ig
Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o... OMIM:204690
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth ORPHA:1811
Immunodeficiency 9
Stomatitis, Amelogenesis imperfecta, Recurrent aphthous stomatitis OMIM:612782
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79411
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth ORPHA:3145
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Malar flattening, Bilateral cleft lip and palate, Enamel hypoplasia, Ankyloglossia, ... OMIM:618874
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth ORPHA:3010
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia OMIM:263540
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... OMIM:613684
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... OMIM:226600
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Failure to thrive, Supernumerary tooth, High, narrow palate, Decr... ORPHA:2980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Hypodontia, Cleft palate, Oligodontia, Enamel hypoplasia, Thick vermilion border... OMIM:619184
Usher Syndrome Type 2
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:231178
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Microdontia, Enamel hypopla... OMIM:619293
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Catifa Syndrome
Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt... OMIM:618761
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Advanced... ORPHA:1133
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Abnormality of the dentition, Carious teeth ORPHA:3270
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth OMIM:618506
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Hypoplasia... OMIM:249620
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten... OMIM:170390
Scarf Syndrome
Inguinal hernia, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcification of dental ... ORPHA:3134
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... ORPHA:1031
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth ORPHA:2501
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth OMIM:613849
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Elbow flexion co... OMIM:210600
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Oligodontia, Supernumerary tooth ORPHA:1264
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Hypodontia, Flexion contracture, Carious teeth OMIM:612079
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate OMIM:619692
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Mandibular prognathia, Malar flattening, Abnormal dental enamel morphology ORPHA:2180
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Hall-Riggs Syndrome
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Thick vermilion border, Abnor... ORPHA:2107
Temtamy Syndrome
Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum OMIM:218340
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Kohlschutter-Tonz Syndrome-Like
Decreased body weight, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced... OMIM:619229
Oculotrichodysplasia
Widely spaced primary teeth, Agenesis of permanent teeth, Microdontia of primary teeth, Carious t... OMIM:257960
Bone Marrow Failure Syndrome 3
Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hernia, Amelogenesis imperfecta OMIM:617052
Acrofacial Dysostosis, Catania Type
Carious teeth OMIM:101805
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Shagreen patch, Delayed eruption of teeth, Hypodontia ORPHA:1816
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition ORPHA:1858
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth OMIM:277440
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion ORPHA:181
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Hypophosphatasia, Childhood
Premature loss of primary teeth, Carious teeth OMIM:241510
48,Xxyy Syndrome
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... ORPHA:10
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Andersen-Tawil Syndrome
High palate, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Oligodonti... ORPHA:37553
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Hypoplasia of teeth, Microdontia, Cleft palate ORPHA:2728
Hamamy Syndrome
High palate, Wide mouth, Dental malocclusion, Hypodontia, Inguinal hernia, Everted lower lip verm... OMIM:611174
Specific Granule Deficiency 2
Amelogenesis imperfecta, Conical tooth, Tooth malposition OMIM:617475
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia OMIM:614576
Oslam Syndrome
Carious teeth ORPHA:2760
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ... OMIM:164200
Hypophosphatasia, Adult
Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth OMIM:146300
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Wide mouth, Bifid uvula, Abnormality of the dentition OMIM:615802
Mandibuloacral Dysplasia
High palate, Dental crowding, Increased adipose tissue around the neck, Lipoatrophy, Micrognathia... ORPHA:2457
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Micro... OMIM:259775
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Macrodontia, Vaginal hernia, Mandibular prognathia, Abnormal dental ena... ORPHA:2916
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Cockayne Syndrome Type 1
Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Abnormality of... ORPHA:90321
Acrofacial Dysostosis, Weyers Type
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... ORPHA:952
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental morphology, Precocious puberty, Abnormality of dental color OMIM:163200
Kilquist Syndrome
Wide mouth, Hypoplasia of teeth, Mandibular prognathia OMIM:619080
Blepharo-Cheilo-Odontic Syndrome
Bilateral cleft lip and palate, Conical tooth, Carious teeth ORPHA:1997
Scarf Syndrome
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia OMIM:312830
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... OMIM:602483
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Premature loss of teeth, Narrow mouth, Flexion contracture, Micrognathia, Loss of tr... OMIM:608612
Codas Syndrome
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1458
Dysostosis, Stanescu Type
Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo... ORPHA:1798
Xfe Progeroid Syndrome
Enamel hypoplasia, Premature loss of teeth, Absence of subcutaneous fat, Corneal scarring OMIM:610965
Short Syndrome
Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno... ORPHA:3163
Cleidocranial Dysplasia 1
High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft palate, Malar flatten... OMIM:119600
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Carious teeth... ORPHA:3253
Mucopolysaccharidosis, Type Ivb
Wide mouth, Hepatomegaly, Grayish enamel, Carious teeth, Widely spaced teeth, Restrictive ventila... OMIM:253010
Usher Syndrome
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:886
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Delayed eruption of teeth, Br... ORPHA:2863
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Corneodermatoosseous Syndrome
Gingivitis, Abnormal dental enamel morphology, Carious teeth ORPHA:3194
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Mucopolysaccharidosis, Type Iva
Wide mouth, Hepatomegaly, Grayish enamel, Carious teeth, Widely spaced teeth, Bronchoconstriction... OMIM:253000
Cole-Carpenter Syndrome
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2050
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Micrognathia, Short philtrum, Oligodontia, Long philtrum, Downturned corners of mou... ORPHA:391408
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Microretrognathia, Supernumerary tooth, ... OMIM:311200
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Grayish enamel, Carious teeth, Hernia, Abnormal dental ... ORPHA:582
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele OMIM:243150
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow mouth, Narrow palate, Thick lower lip vermilion, Carious teeth ORPHA:457365
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Retrognathia, Abnormal palate morphology, Malar flattening, Carious teeth ORPHA:1390
Porphyria, Congenital Erythropoietic
Cholelithiasis, Erythrodontia, Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:263700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Joint contracture of the hand, Cleft palate, Oligodontia, Oral cleft, Camptodact... OMIM:601701
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Camptodactyly of finger, Taurodontia, Abnormal dental enamel morpho... ORPHA:3220
Cleidocranial Dysplasia
Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor... ORPHA:1452
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Asthma, Hepatomegaly, Failure... OMIM:612714
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta ORPHA:169090
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth, T... OMIM:619736
Odontochondrodysplasia 1
Long philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta OMIM:184260
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors OMIM:610706
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Delayed eruption... OMIM:619269
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Mandi... OMIM:603463
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... ORPHA:1071
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Stomatitis, Recurrent aphthous stomatitis OMIM:212750
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Enamel hypoplasia, Microdontia OMIM:210720
Pde4D Haploinsufficiency Syndrome
Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the maxilla, Mandibu... ORPHA:439822
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... ORPHA:73223
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Micrognathia, Microdontia, Enamel hypoplasia, Bilateral camptod... OMIM:619777
Seckel Syndrome
Micrognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:808
48,Xxxy Syndrome
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... ORPHA:96263
Congenital Disorder Of Glycosylation, Type Iim
High palate, Short philtrum, Enamel hypoplasia, Exaggerated cupid's bow, Open mouth, Thick vermil... OMIM:300896
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru... OMIM:265800
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth OMIM:617337
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding OMIM:618825
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Joint contracture of the 5th finger, Carious teeth ORPHA:1883
Sanjad-Sakati Syndrome
Thin vermilion border, Abnormality of the dentition, Micrognathia, Long philtrum, Abnormal dental... ORPHA:2323
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Enamel hypoplasia, Smooth tongue, Atrophic scars, Scarring ORPHA:79396
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Inguinal hernia, Short philtrum, Campto... ORPHA:137834
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Cleft palate, Malar flattening, Long philtrum, Delayed eruption of teeth... OMIM:607812
Osteogenesis Imperfecta, Type X
Micrognathia, Inguinal hernia, Dentinogenesis imperfecta, Malar flattening OMIM:613848
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Joint contracture of the hand, Malar flattening, Micrognathia, Camptodactyly OMIM:608257
Isolated Anencephaly
Thymus hyperplasia, Cleft lip ORPHA:563609
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology ORPHA:1334
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... OMIM:200990
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele OMIM:600373
49,Xxxxy Syndrome
Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Mandibular progna... ORPHA:96264
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cleft palate, Inguinal hernia, Retrognathia, Microdontia, Hypoplasia of the zygomatic bone, Abnor... ORPHA:1812
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Oligodontia, Hypodontia, Natal tooth OMIM:601345
Cenani-Lenz Syndrome
Hypodontia, Malar flattening, High, narrow palate, Short philtrum, Abnormal dental enamel morphology ORPHA:3258
Osteogenesis Imperfecta
Dental malocclusion, Dentinogenesis imperfecta, Small for gestational age, Abnormality of the den... ORPHA:666
Laron Syndrome
Micrognathia, Tooth agenesis, Delayed eruption of teeth, Microdontia ORPHA:633
Cherubism
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Macular scar, Oligodontia, Jaw swe... OMIM:118400
Cranioectodermal Dysplasia 3
Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion OMIM:614099
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth OMIM:126550
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Premature loss of teeth, Reduced subcutaneous adipose tissue, Increased adipose tiss... OMIM:248370
Tetrasomy 12P
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Long phi... ORPHA:884
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Micrognathia, Velopharyngeal insufficiency, Carious teeth OMIM:613680
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Wide mouth, Cleft palate, Malar flattening, Micrognathia, Thick vermi... ORPHA:85199
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Costello Syndrome
Narrow palate, Macroglossia, Abnormality of the dentition, Abnormal dental enamel morphology, Thi... ORPHA:3071
Trichothiodystrophy
Multiple joint contractures, High, narrow palate, Retrognathia, Carious teeth, Enamel hypoplasia,... ORPHA:33364
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Long philtrum, Enamel agenesis... OMIM:614701
Dyskeratosis Congenita, Autosomal Recessive 6
Premature loss of teeth, Oral leukoplakia, Carious teeth OMIM:616353
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Dental malocclusion, Hip contracture, Carious teeth, Enamel ... OMIM:216400
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Keloids, Atrophic scars, Atypical scarring of skin ORPHA:79410
3M Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip ve... ORPHA:2616
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Nail-Patella Syndrome
Flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Enamel hypop... ORPHA:2614
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Inguinal hernia, Cleft palate, Failure of eruption of permanent teeth OMIM:272460
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Cleft palate, Hypodontia, Everted lower lip vermilion, Abnorm... ORPHA:96169
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Micrognathia, De... OMIM:264475
Craniometadiaphyseal Dysplasia
High palate, Malar flattening, Microdontia, Carious teeth, Natal tooth, Dental crowding, Mandibul... OMIM:269300
Bosma Arhinia Microphthalmia Syndrome
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Inguinal hernia, Clef... OMIM:603457
Immunodeficiency 49
Micrognathia, Short philtrum, Natal tooth, Umbilical hernia OMIM:617237
Cranioectodermal Dysplasia 1
High palate, Anodontia, High, narrow palate, Hypodontia, Everted lower lip vermilion, Inguinal he... OMIM:218330
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Micrognathia, Hypoplasia of the tooth germ, Bifid uvula, Contracture of the proximal interphalang... ORPHA:293967
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Hypodontia, Abnormality of the dentition, Carious teeth, Abnormal oral... ORPHA:659
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Congenital Erythropoietic Porphyria
Erythrodontia, Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulo... ORPHA:79277
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology ORPHA:251004
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Narrow mouth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Carious teeth, Mandi... ORPHA:1110
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Hepatoerythropoietic Porphyria
Hemolytic anemia, Erythrodontia, Erythroid hyperplasia, Splenomegaly ORPHA:95159
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Thin vermilion border, Micrognathia, Delayed eruption of teeth, Hypoplasia of the ma... OMIM:601812
Lelis Syndrome
Mandibular prognathia, Furrowed tongue, Hypodontia, Carious teeth ORPHA:140936
Crisponi/Cold-Induced Sweating Syndrome 1
High palate, Narrow mouth, Retrognathia, Micrognathia, Long philtrum, Carious teeth, Camptodactyl... OMIM:272430
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth, Carious teeth OMIM:259710
Rothmund-Thomson Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Abnormality of the dentition, Delayed eru... ORPHA:2909
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... OMIM:614753
Proteus-Like Syndrome
Splenomegaly, Open bite, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ova... ORPHA:2969
Lacrimoauriculodentodigital Syndrome
Hypodontia, Abnormality of the dentition, Micrognathia, Microdontia, Bifid uvula, Abnormal saliva... ORPHA:2363
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79409
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Mandibular prognathia, Advanced eruption of teeth OMIM:262190
Pachyonychia Congenita 2
Angular cheilitis, Oral leukoplakia, Natal tooth OMIM:167210
Rothmund-Thomson Syndrome, Type 2
High palate, Supernumerary tooth, Micrognathia, Agenesis of permanent teeth, Delayed eruption of ... OMIM:268400
Oculodentodigital Dysplasia
Tooth agenesis, Taurodontia, Cleft palate, Micrognathia, Camptodactyly of finger, Premature loss ... ORPHA:2710
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p... OMIM:157980
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth ORPHA:3214
Orofaciodigital Syndrome Type 1
High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Hypodontia, Cleft palate... ORPHA:2750
Cockayne Syndrome Type 3
Enamel hypoplasia, Flexion contracture, Carious teeth ORPHA:90324
Branchioskeletogenital Syndrome
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif... ORPHA:1299
Rubinstein-Taybi Syndrome 1
High palate, Dental malocclusion, Narrow mouth, Narrow palate, High, narrow palate, Cleft palate,... OMIM:180849
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dental malocclusion, Abnormal number of teeth, Agenesis of p... ORPHA:191
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Flexion contracture, Camptodactyly of finger, Premature loss of primary... ORPHA:2908
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Lacrimoauriculodentodigital Syndrome
Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Carious teeth, Enamel hypoplas... OMIM:149730
Focal Dermal Hypoplasia
Tooth agenesis, Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Open bite, I... ORPHA:2092
Tuberous Sclerosis 1
Gingival fibromatosis, Shagreen patch, Dental enamel pits OMIM:191100
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Micrognathia, Chylothorax OMIM:619036
Trichodermodysplasia-Dental Alterations Syndrome
Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth ORPHA:3353
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Microretrognathia, Carious teeth OMIM:615560
Alström Syndrome
Respiratory distress, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hypergonadotropic hy... ORPHA:64
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Joint contracture of the hand OMIM:309000
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Microdontia, Pulp calcification OMIM:606895
Eiken Syndrome
Eruption failure, Persistence of primary teeth, Short philtrum, Oligodontia, Multiple unerupted t... OMIM:600002
Focal Dermal Hypoplasia
Cleft upper lip, Dental malocclusion, Hiatus hernia, Hypodontia, Cleft palate, Congenital diaphra... OMIM:305600
X-Linked Hypophosphatemia
Cellulitis, Odontodysplasia, Enthesitis, Tooth abscess, Abnormal dentin morphology ORPHA:89936
Eec Syndrome
Tooth agenesis, Taurodontia, Cleft palate, Microdontia, Carious teeth, Oral cleft, Abnormal denta... ORPHA:1896
Rothmund-Thomson Syndrome Type 2
High palate, Tooth agenesis, Cleft palate, Abnormality of the dentition, Microdontia, Delayed eru... ORPHA:221016
Hypophosphatemic Rickets
Periapical tooth abscess, Abnormality of the dentition, Craniofacial asymmetry, Odontodysplasia, ... ORPHA:437
Rothmund-Thomson Syndrome Type 1
Tooth agenesis, Abnormality of the dentition, Delayed eruption of teeth, Microdontia, Carious tee... ORPHA:221008
Incontinentia Pigmenti
Hypodontia, Camptodactyly of finger, Delayed eruption of teeth, Oral cleft, Umbilical hernia, Abn... ORPHA:464
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, High, narrow palate, Cleft palate, Inguinal hernia, Bifid uvula, Facial hyperostosis,... ORPHA:2658
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormal oral mucosa morphology, Erosion of oral mucosa ORPHA:79404
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Umbilical hern... ORPHA:534
Stickler Syndrome
Cleft upper lip, Tooth agenesis, Cleft palate, Open bite, Glossoptosis, Micrognathia, Malar flatt... ORPHA:828
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dental malocclusion, Carious teeth, Atypical scarring of ski... OMIM:133540
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology ORPHA:79430
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Narrow mouth, Hip contracture, Reduced subcutaneous adipose tissue, Flex... OMIM:619503
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Dentinogenesis imperfecta, Micrognathia, Long philtrum,... ORPHA:536467
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Microdontia, Carious teeth OMIM:224230
Smith-Lemli-Opitz Syndrome
Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Congenital diaphragmatic he... ORPHA:818
Familial Adenomatous Polyposis 1
Eruption failure, Supernumerary tooth, Multiple lipomas, Carious teeth, Keloids, Odontoma OMIM:175100
Familial Adenomatous Polyposis
Eruption failure, Lipoma, Supernumerary tooth, Abnormal cementum morphology, Abnormality of the d... ORPHA:733
Tetrasomy 9P
High palate, Abnormal number of permanent teeth, Cleft palate, Micrognathia, Short philtrum, Bifi... ORPHA:3310
Singleton-Merten Syndrome 1
Eruption failure, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla, Thin up... OMIM:182250
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Scarring, Abnormality of the dentition, Carious teeth, Abnormal tongue morphology, Abn... ORPHA:158668
Proteus Syndrome
Tooth agenesis, Ovarian neoplasm, Lymphangioma, Splenomegaly, Cachexia, Neoplasm of the thymus, T... ORPHA:744
22Q11.2 Deletion Syndrome
Narrow mouth, Malar flattening, Cleft palate, Inguinal hernia, Abnormality of the dentition, Shor... ORPHA:567
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Mandibular aplasia, Abnormal dental ... ORPHA:2556
Kindler Syndrome
Gingivitis, Oral leukoplakia, Periodontitis, Carious teeth OMIM:173650
Proximal Renal Tubular Acidosis
Enamel hypomineralization ORPHA:47159
Ramon Syndrome
Delayed eruption of teeth, Narrow palate, Gingival fibromatosis OMIM:266270
Pallister-Killian Syndrome
Alveolar ridge overgrowth, Wide mouth, Congenital diaphragmatic hernia, Cleft palate, Everted low... OMIM:601803
Williams Syndrome
Wide mouth, Dental malocclusion, Gingival overgrowth, Hypodontia, Macroglossia, Open bite, Everte... ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Inguinal hernia, Camptodactyly of finger, Omphalocele, Abnormal dental enamel morphology ORPHA:2273
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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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