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Gene: Amtn MGI:1918671

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Gene Summary

Name:
amelotin
Synonyms:
5430427O21Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Amtnem1(IMPC)Mbp HOM Early adult 0.00
small kidney Amtnem1(IMPC)Mbp HOM Early adult 0.00
small spleen Amtnem1(IMPC)Mbp HOM Early adult 0.00

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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

30 Images

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Histopathology

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Amtn 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 Amtn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
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, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters OMIM:226650
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits, Scarring alopecia of scalp OMIM:619787
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79405
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Taurodontism
Taurodontia OMIM:272700
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Steatocystoma Multiplex
Natal tooth OMIM:184500
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening ORPHA:139474
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp ORPHA:79402
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Carious teeth, Atrophic scars OMIM:226700
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl... ORPHA:251393
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... ORPHA:3352
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita OMIM:217150
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Enamel ... OMIM:234250
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Mandibular prognathia, High palate, Tooth agenesis, Car... OMIM:618363
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp OMIM:226670
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Jalili Syndrome
Yellow-brown discoloration of the teeth, Carious teeth, Enamel agenesis OMIM:217080
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
48,Xyyy Syndrome
Thick lower lip vermilion, High palate, Enamel hypoplasia, Irregularly spaced teeth, Long philtrum ORPHA:99329
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia OMIM:190320
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... ORPHA:1193
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit... ORPHA:69087
Seckel Syndrome 5
Retrognathia, Oligodontia, Selective tooth agenesis, High palate, Enamel hypoplasia, Micrognathia... OMIM:613823
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Ramon Syndrome
Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth, Gingival fibromatosis ORPHA:3019
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp OMIM:612843
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Micrognathia, Malar flattening, Hypodontia, Premature loss of permanent teeth OMIM:212780
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Mulibrey Nanism
Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses, Enamel hypoplasia, Microglo... OMIM:253250
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... OMIM:618729
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2026
Filippi Syndrome
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology... OMIM:272440
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna... OMIM:613684
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Scarring alopecia of scalp, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth... OMIM:618727
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Braddock-Carey Syndrome 1
Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Cleft palate, Pierre-Robin sequenc... OMIM:619980
Intellectual Disability, Birk-Barel Type
High, narrow palate, Short philtrum, Foot joint contracture, Incisor macrodontia, Congenital fing... ORPHA:166108
Lacrimoauriculodentodigital Syndrome 3
Enamel hypoplasia, Carious teeth, Widely spaced teeth OMIM:620193
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Taurodontia OMIM:618205
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Achilles tendon contracture, Dental malocclusion, Thin upper lip vermilion, ... OMIM:619719
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp ORPHA:59303
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Cockayne Syndrome Type 2
Scarring, Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypoplasia, Flexion cont... ORPHA:90322
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Oculoskeletodental Syndrome
Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia ORPHA:557003
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita, Oral mucosal blisters OMIM:226730
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia OMIM:610706
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Pyle Disease
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypoplastic front... OMIM:265900
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg... OMIM:204690
Clark-Baraitser syndrome
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... OMIM:300602
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum OMIM:615502
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Abnormality of the dentition, Everted lower lip vermilion, Mic... ORPHA:1515
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Nance-Horan Syndrome
Screwdriver-shaped incisors, Supernumerary maxillary incisor, Diastema, Mulberry molar OMIM:302350
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Enamel hypoplasia, Malar... OMIM:618874
Catifa Syndrome
Inguinal hernia, Tooth malposition, Delayed eruption of teeth, Increased overbite, Camptodactyly,... OMIM:618761
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel hypoplasia, Wid... OMIM:619293
Qazi-Markouizos Syndrome
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum ORPHA:3010
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Rapp-Hodgkin Syndrome
Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypopl... OMIM:129400
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Hypoplasia of teeth, Accessory oral frenulum, Flexion contracture, Camptodactyly ORPHA:88630
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oligodontia, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence, Thick vermi... OMIM:619184
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flexion contracture, Oral muco... OMIM:226600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate... OMIM:170390
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Dentinogenesis imperfecta OMIM:613849
Aredyld Syndrome
Lipoatrophy, Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morpho... ORPHA:1133
Pycnodysostosis
Obtuse angle of mandible, High palate, Abnormality of the dentition, Persistence of primary teeth... ORPHA:763
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Dental malocclusion, Delayed eruption o... ORPHA:2980
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum OMIM:605282
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Scarf Syndrome
Inguinal hernia, Enamel hypoplasia, Umbilical hernia, Long philtrum, Hypocalcification of dental ... ORPHA:3134
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, High palate, Elbow flexion contracture, Enamel hypopla... OMIM:210600
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit... ORPHA:37553
Ohdo Syndrome
Thin vermilion border, Widely spaced teeth, Narrow mouth, Hypoplasia of teeth, Micrognathia, Smoo... OMIM:249620
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Mucopolysaccharidosis Type 4
Grayish enamel, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, W... ORPHA:582
Temtamy Preaxial Brachydactyly Syndrome
Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, Abnormality of the dentition... ORPHA:363417
48,Xxyy Syndrome
Thick lower lip vermilion, Broad jaw, Inguinal hernia, Delayed eruption of teeth, Abnormal dental... ORPHA:10
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrod... OMIM:618067
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati... OMIM:619229
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth OMIM:620114
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin... OMIM:257850
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont... ORPHA:50814
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Carious teeth, Delayed eruption of teeth OMIM:277440
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flattening ORPHA:2180
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth ORPHA:181
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Abnormal dental morphology OMIM:163200
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of teeth, Micro... OMIM:620250
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition OMIM:615802
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Shagreen patch, Delayed eruption of teeth ORPHA:1816
Raine Syndrome
Gingival overgrowth, Mandibular prognathia, High palate, Narrow mouth, Microdontia, Protruding to... OMIM:259775
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:1782
Cockayne Syndrome Type 1
Scarring, Hypoplasia of the primary teeth, Foot joint contracture, Mandibular prognathia, Abnorma... ORPHA:90321
Hamamy Syndrome
Inguinal hernia, Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Microgn... OMIM:611174
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Specific Granule Deficiency 2
Amelogenesis imperfecta, Conical tooth, Tooth malposition OMIM:617475
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Solitary median maxillary central incisor, Conical tooth, Abnormality... ORPHA:952
Mucopolysaccharidosis, Type Iva
Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Carious teeth, Wide ... OMIM:253000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Broad alveolar ridges, Premature loss of teeth, Selective to... OMIM:164200
Temtamy Syndrome
Long philtrum, Dental crowding, Micrognathia, Hypoplasia of teeth OMIM:218340
Cole-Carpenter Syndrome 1
Micrognathia, Dentinogenesis imperfecta, Microdontia OMIM:112240
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral cleft palate, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal... ORPHA:3253
Mandibuloacral Dysplasia
Lipoatrophy, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous adipose tissue in ... ORPHA:2457
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Inguinal hernia, Talon cusp, ... ORPHA:2409
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Oral ulcer, Microdontia, Enamel hypoplasia, Downturned corners of mouth,... OMIM:617052
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Carious teeth, Wide ... OMIM:253010
Dysostosis, Stanescu Type
Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Toot... ORPHA:1798
Codas Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Short Syndrome
Abnormal zygomatic bone morphology, Inguinal hernia, Abnormal dental enamel morphology, Abnormali... ORPHA:3163
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Vaginal hernia, Cleft palate, Hypodonti... ORPHA:2916
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Cleft palate, Microdontia, Widely spaced teeth ORPHA:2728
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short philtrum, Oligodontia, Narrow mouth, Hypoplasia of teeth, Downturned corners of mouth, Micr... ORPHA:391408
Xfe Progeroid Syndrome
Enamel hypoplasia, Premature loss of teeth, Corneal scarring, Absence of subcutaneous fat OMIM:610965
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of truncal subcutaneous adi... OMIM:608612
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Thick vermilion border, Ma... ORPHA:364028
Orofaciodigital Syndrome I
Supernumerary tooth, High palate, Ankyloglossia, Agenesis of permanent teeth, Carious teeth, Enam... OMIM:311200
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Scarf Syndrome
Long philtrum, Enamel hypoplasia, Inguinal hernia, Umbilical hernia OMIM:312830
Cleidocranial Dysplasia 1
Narrow palate, Supernumerary tooth, High, narrow palate, Absent frontal sinuses, High palate, Hyp... OMIM:119600
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Delayed eruption of teeth, Abnormal dental enamel morph... ORPHA:1452
Kilquist Syndrome
Hypoplasia of teeth, Mandibular prognathia, Wide mouth OMIM:619080
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... ORPHA:2751
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency... ORPHA:199302
Cohen Syndrome
High, narrow palate, Short philtrum, Hypoplasia of the maxilla, Micrognathia, Open mouth, Macrodo... OMIM:216550
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition ORPHA:3238
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele OMIM:243150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ... ORPHA:438216
48,Xxxy Syndrome
Inguinal hernia, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognat... ORPHA:96263
Celiac Disease, Susceptibility To, 1
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis OMIM:212750
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia... OMIM:619777
Odontochondrodysplasia 1
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth OMIM:184260
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo... ORPHA:3220
Arthrogryposis And Ectodermal Dysplasia
Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Cleft upper lip, ... OMIM:601701
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Gingivitis ORPHA:3194
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... ORPHA:1071
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Pde4D Haploinsufficiency Syndrome
Short philtrum, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasia of the maxil... ORPHA:439822
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Retrognathia, Microdontia OMIM:210720
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thin vermilion border, Conical incisor, Maxillary lateral incisor microdontia, Micrognathia, Long... ORPHA:73223
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of teeth, Bifid uvula, Wide mou... OMIM:607812
49,Xxxxy Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, Open bite, C... ORPHA:96264
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Periodontitis, Premature loss of teeth, Dentinogenesis imperfecta, Delayed eruption... OMIM:619269
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... OMIM:150400
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Orofacial Cleft 15
Inguinal hernia, Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral c... OMIM:616788
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Knee flexion contracture, Mandibular prognathia, Elbow flexion contracture, Abno... OMIM:151050
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Inguinal hernia, Abnormal dental enamel morphology, Microdontia, Cleft palate, Hypo... ORPHA:1812
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Gingival ov... OMIM:235510
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Umbilica... OMIM:200990
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,... OMIM:265800
Trichothiodystrophy
Retrognathia, High, narrow palate, Enamel hypoplasia, Absence of subcutaneous fat, Carious teeth,... ORPHA:33364
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Smooth tongue, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79396
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Inguinal hernia, Dental crowding, Agenesis of maxillary incisor, High ... OMIM:620545
Congenital Disorder Of Glycosylation, Type Iim
Short philtrum, Mandibular prognathia, Exaggerated cupid's bow, High palate, Fused teeth, Enamel ... OMIM:300896
Cockayne Syndrome A
Dental malocclusion, Mandibular prognathia, Hypoplasia of teeth, Carious teeth, Reduced subcutane... OMIM:216400
Sanjad-Sakati Syndrome
Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognat... ORPHA:2323
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Cenani-Lenz Syndrome
High, narrow palate, Short philtrum, Abnormal dental enamel morphology, Malar flattening, Hypodontia ORPHA:3258
Codas Syndrome
Enamel hypoplasia, Omphalocele, Delayed eruption of teeth OMIM:600373
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology ORPHA:1334
Marshall Syndrome
Thick lower lip vermilion, Absent frontal sinuses, Thick upper lip vermilion, Bifid uvula, Cleft ... OMIM:154780
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Thin vermilion border, Dentinogenesis imperfecta, Umbilical hernia OMIM:614856
Cherubism
Narrow palate, Dental malocclusion, Oligodontia, Jaw swelling, Macular scar, Multiple impacted te... OMIM:118400
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:3071
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis ORPHA:808
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Abnormality of the dentiti... ORPHA:96169
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Macrodontia of permanent maxillary central incisor ORPHA:466722
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology, Abnormal dental morphology, Microg... ORPHA:85199
3M Syndrome
Long philtrum, Abnormal dental enamel morphology, Everted lower lip vermilion, Delayed eruption o... ORPHA:2616
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Velopharyngeal insufficiency, Cleft palate, Enamel agenesis, Smooth philtr... OMIM:614701
Odontoonychodermal Dysplasia
Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... OMIM:257980
Nail-Patella Syndrome
Elbow flexion contracture, Enamel hypoplasia, Achilles tendon contracture, Flexion contracture, K... ORPHA:2614
Treacher-Collins Syndrome
Retrognathia, Abnormal dental enamel morphology, Open bite, Glossoptosis, Abnormality of the dent... ORPHA:861
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Loss of subcutaneous adipose tissue in limbs, Elbow flexion contracture, Increas... OMIM:248370
Cranioectodermal Dysplasia 1
High, narrow palate, Widely spaced teeth, Inguinal hernia, High palate, Everted lower lip vermili... OMIM:218330
Porphyria, Congenital Erythropoietic
Atypical scarring of skin, Erythrodontia, Corneal scarring, Joint contracture of the hand OMIM:263700
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Cleft palate, Failure of eruption of permanent teeth, Inguinal hernia OMIM:272460
Congenital Syphilis
High palate, Notched primary central incisor, Semilunar tooth, Mulberry molar, Hyperplasia of the... ORPHA:499009
Cerebellofaciodental Syndrome
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia OMIM:616202
Osteogenesis Imperfecta
Inguinal hernia, Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel m... ORPHA:666
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Orofaciodigital Syndrome Ii
High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ... OMIM:252100
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Micrognathia, Long philtrum, Dental malocclusion, Macrod... ORPHA:444072
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypoplasia of the tooth germ, Micrognathia, Bifid uvula, Contracture of the proximal interphalang... ORPHA:293967
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Ellis Van Creveld Syndrome
Thin vermilion border, Delayed eruption of teeth, Conical incisor, Abnormality of the dentition, ... ORPHA:289
Oculodentodigital Dysplasia
Broad alveolar ridges, Abnormal dental enamel morphology, Non-midline cleft of the upper lip, Man... ORPHA:2710
Cranioectodermal Dysplasia 3
Hypoplasia of teeth, Micrognathia, Widely spaced teeth, Everted lower lip vermilion OMIM:614099
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Dental malocclusion, High palate, Paranasal sinus hypoplasia, Hypoplasia of teet... OMIM:603457
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve... ORPHA:364577
W Syndrome
Camptodactyly, Upper lip pit, Submucous cleft hard palate, Broad uvula, Agenesis of maxillary cen... ORPHA:2804
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Inguinal hernia, Dental crowding, High palate, Hypoplasia of teeth, Micrognathia, O... OMIM:620654
Lacrimoauriculodentodigital Syndrome
Orofacial cleft, Abnormal salivary gland morphology, Abnormal dental enamel morphology, Abnormali... ORPHA:2363
Rothmund-Thomson Syndrome
Supernumerary tooth, Delayed eruption of teeth, Abnormal dental enamel morphology, Selective toot... ORPHA:2909
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Stormorken Syndrome
Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology ORPHA:251004
Rubinstein-Taybi Syndrome 1
Narrow palate, Retrognathia, High, narrow palate, Dental crowding, Narrow mouth, Talon cusp, High... OMIM:180849
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Cleft lip, Notched primary central incisor OMIM:620519
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia ORPHA:3214
Cockayne Syndrome
Congenital contracture, Abnormal dental morphology, Reduced subcutaneous adipose tissue, Contract... ORPHA:191
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palate, Microdontia, ... OMIM:268400
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta OMIM:616507
Orofaciodigital Syndrome Type 1
Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High palate, Abnormality of ... ORPHA:2750
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Cockayne Syndrome Type 3
Enamel hypoplasia, Carious teeth, Flexion contracture ORPHA:90324
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Hepatoerythropoietic Porphyria
Scarring, Erythrodontia, Scarring alopecia of scalp ORPHA:95159
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Osteogenesis Imperfecta, Type X
Micrognathia, Dentinogenesis imperfecta, Inguinal hernia, Malar flattening OMIM:613848
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Inguinal hernia, Abnormal adipose tissue morphology, Abnormal de... ORPHA:2092
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m... ORPHA:1299
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Elsahy-Waters Syndrome
Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Delayed eruption of teeth, M... OMIM:211380
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Abnormal dental enamel morphology, Gingivitis, Carious teeth, Premature... ORPHA:2908
Chand Syndrome
Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala... ORPHA:1401
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Delayed eruption of teeth, Inguinal hernia, Dental crowding, Mandibular progna... OMIM:619503
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, Microdontia, Carious teet... OMIM:149730
Incontinentia Pigmenti
Orofacial cleft, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental mo... ORPHA:464
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Inguinal hernia, Delayed eruption of teeth, Oligodontia, Omphalo... OMIM:305600
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Trichodermodysplasia-Dental Alterations Syndrome
Tooth agenesis, Supernumerary tooth, Abnormal dental morphology, Delayed eruption of teeth ORPHA:3353
Eec Syndrome
Orofacial cleft, Abnormal dental enamel morphology, Microdontia, Tooth agenesis, Carious teeth, C... ORPHA:1896
Hypomagnesemia 3, Renal
Amelogenesis imperfecta, Enamel hypoplasia, Hypomature enamel OMIM:248250
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Umbilical hernia, Long p... ORPHA:534
Congenital Erythropoietic Porphyria
Scarring, Erythrodontia, Increased connective tissue, Scarring alopecia of scalp ORPHA:79277
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormal oral mucosa morphology, Erosion of oral mucosa ORPHA:79404
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Abnormal dental enamel morphology, High palate, Abnormality of the den... ORPHA:221016
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Inguinal hernia, Abnormal dental enamel morphology, Mandibular prognathia, F... ORPHA:2658
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Micro... ORPHA:221008
Mirage Syndrome
Anemia, Hypospadias, Microphallus, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, High palate, Microdontia, Carious teeth, Micrognathia, Dentinogenesis imperfecta,... ORPHA:536467
Tuberous Sclerosis 1
Shagreen patch, Dental enamel pits, Gingival fibromatosis OMIM:191100
Lowe Oculocerebrorenal Syndrome
Corneal scarring, Camptodactyly of finger, Enamel hypoplasia, Keloids, Joint contracture of the hand OMIM:309000
X-Linked Hypophosphatemia
Abnormal dentin morphology, Tooth abscess, Enthesitis, Cellulitis, Odontodysplasia ORPHA:89936
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Renal hypoplasia, Hypoplastic spleen, Hydronephrosis, Horse... OMIM:601186
Cockayne Syndrome B
Dental malocclusion, Mandibular prognathia, Hypoplasia of teeth, Carious teeth, Reduced subcutane... OMIM:133540
Stickler Syndrome
Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos... ORPHA:828
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Supernumerary tooth, Advanced eruption of teeth, Abnormal dental... ORPHA:818
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Widely spaced teeth, Dental crowding, Mandibular prognathia, Hig... OMIM:618371
Ctcf-Related Neurodevelopmental Disorder
Thin vermilion border, Short philtrum, Inguinal hernia, Joint contracture of the 5th finger, Narr... ORPHA:363611
Cornelia De Lange Syndrome 6
Long philtrum, Cleft lip, Macrodontia of permanent maxillary central incisor, Inguinal hernia OMIM:620568
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Narrow palate, Supernumerary tooth, Dental crowding, Talon cusp, Carious teeth, Natal tooth, Hypo... ORPHA:353281
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology ORPHA:79430
Doors Syndrome
Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Broad alveolar ridges, Short lingu... ORPHA:79500
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Lacticaciduria, Renal insufficiency, Renal cyst, Reticulocyto... ORPHA:699
Holoprosencephaly 9
Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ... OMIM:610829
Arboleda-Tham Syndrome
Short philtrum, Peg-shaped maxillary lateral incisors, Mandibular prognathia, Narrow mouth, Downt... OMIM:616268
Tetrasomy 9P
Amelogenesis imperfecta, Abnormal number of permanent teeth, Short philtrum, Dental crowding, Abn... ORPHA:3310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Supernumerary tooth, Dental crowding, High palate, Corneal scarring, Talon cusp, C... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Supernumerary tooth, Dental crowding, High palate, Corneal scarring, Talon cusp, C... ORPHA:353277
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Camptodactyly of 2nd-5th fingers, Delayed eruption of teeth, Ing... OMIM:601803
Familial Adenomatous Polyposis
Supernumerary tooth, Lipoma, Eruption failure, Odontoma, Abnormality of the dentition, Abnormal c... ORPHA:733
22Q11.2 Deletion Syndrome
Short philtrum, Inguinal hernia, Abnormal dental enamel morphology, Narrow mouth, Abnormality of ... ORPHA:567
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, High palate, Narrow mouth, Cleft mandible, Micrognathia, Pierre-Robin... OMIM:268305
Peters-Plus Syndrome
Thin vermilion border, Widely spaced teeth, Conical incisor, Short lingual frenulum, Exaggerated ... OMIM:261540
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Retrognathia, Abnormal dental enamel morphology, Mandibular apla... ORPHA:2556
Osteogenesis Imperfecta, Type Vii
Long philtrum, Dentinogenesis imperfecta OMIM:610682
Singleton-Merten Syndrome 1
Hypoplasia of the tooth germ, Eruption failure, Short dental root, Hypoplasia of the maxilla, Car... OMIM:182250
Proximal Renal Tubular Acidosis
Enamel hypomineralization ORPHA:47159
Williams Syndrome
Thick lower lip vermilion, Dental malocclusion, Inguinal hernia, Hypodontia, Abnormal dental enam... ORPHA:904
Bloom Syndrome
Agenesis of maxillary lateral incisor, Malar flattening OMIM:210900
Chilton-Okur-Chung Neurodevelopmental Syndrome
Agenesis of incisor, Widely spaced teeth, Short philtrum, Mandibular prognathia, Ankyloglossia, M... OMIM:619841
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Inguinal hernia, Abnormal dental enamel morphology, Omphalocele, Camptodactyly of finger ORPHA:2273
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Lipoma, Abnormal dental enamel morphology, Tooth a... ORPHA:744
Alström Syndrome
Abnormality of dental color, Gingivitis, Tooth agenesis, Recurrent sinusitis, Dorsocervical fat pad ORPHA:64
Johanson-Blizzard Syndrome
Long philtrum, Downturned corners of mouth, Hypoplasia of the primary teeth, Agenesis of permanen... OMIM:243800
Microphthalmia, Syndromic 1
Orofacial cleft, High, narrow palate, Tooth malposition, Dental crowding, High palate, Camptodact... OMIM:309800

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.

Phenotype Allele Zygosity Sex Life Stage
Lymph node - MPATH pathological entity term lymphoid hyperplasia Amtnem1(IMPC)Mbp HOM Early adult
Tooth - MPATH pathological process term hypoplasia Amtnem1(IMPC)Mbp HOM Early adult
Spleen - MPATH pathological entity term lymphoid hyperplasia Amtnem1(IMPC)Mbp HOM Early adult
Lymph node - MPATH pathological process term hyperplasia Amtnem1(IMPC)Mbp HOM Early adult
Spleen - MPATH pathological process term hyperplasia Amtnem1(IMPC)Mbp HOM Early adult

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 Amtn.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Amtnem1(IMPC)Mbp Intra-exon deletion Mice, Tissue
Amtntm373649(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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