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Gene: Amtn MGI:1918671

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Gene Summary

Name:
amelotin
Synonyms:
5430427O21Rik

Order Alleles

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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Histopathology

Images

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 hypomineralization, Enamel hypoplasia OMIM:614832
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia 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
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the 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, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth 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
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth OMIM:619787
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Junctional Epidermolysis Bullosa Inversa
Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Taurodontism
Taurodontia OMIM:272700
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Steatocystoma Multiplex
Natal tooth OMIM:184500
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia 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
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Carious teeth, Enamel hypoplasia OMIM:226700
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn... ORPHA:251393
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... 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
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel OMIM:203550
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia 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
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, 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
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri... OMIM:234250
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,... 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
Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia 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
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the 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
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
48,Xyyy Syndrome
Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate ORPHA:99329
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
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
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... ORPHA:69087
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... OMIM:613823
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Ramon Syndrome
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth ORPHA:3019
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth OMIM:212780
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy... OMIM:253250
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia OMIM:270200
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh... OMIM:272440
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Braddock-Carey Syndrome 1
Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u... OMIM:619980
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ... OMIM:619719
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia ORPHA:59303
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ... ORPHA:90322
Oculoskeletodental Syndrome
Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia ORPHA:557003
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, 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
Delayed eruption of teeth, Cleft palate OMIM:600252
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia OMIM:610706
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate OMIM:615502
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... ORPHA:1515
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia ORPHA:99811
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar OMIM:302350
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef... OMIM:618874
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Widely spaced teeth, Wide mouth, Exaggerated cupid's bow, Microdontia, Thin ... 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
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami 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
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... 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
Camptodactyly, Flexion contracture, Hypoplasia of teeth, Accessory oral frenulum ORPHA:88630
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Oligodontia, Hypodontia, Enamel hypoplasia, Thick verm... OMIM:619184
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Flexion... OMIM:226600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia OMIM:211900
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate OMIM:613849
Aredyld Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Abnormal dental enamel morphology, Narrow mouth... ORPHA:1133
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... 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
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel... ORPHA:2980
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... ORPHA:37553
Scarf Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ... ORPHA:3134
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg... OMIM:210600
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Ohdo Syndrome
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... OMIM:249620
Tooth Agenesis, Selective, 3
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia OMIM:604625
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, H... ORPHA:582
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:363417
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... ORPHA:10
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... ORPHA:2107
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, High palate, Mandibular prognathia, Malar flattening ORPHA:2180
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia 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, Long philtrum, Micrognathia, Narrow mouth, Wide mouth, Hypodontia, T... OMIM:620250
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Wide mouth, Enamel hypoplasia, Abnormality of the dentition OMIM:615802
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth, Shagreen patch ORPHA:1816
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Malar flatteni... OMIM:259775
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:1782
Cockayne Syndrome Type 1
Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ... ORPHA:90321
Hamamy Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypo... OMIM:611174
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Amelogenesis imperfecta OMIM:617475
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... ORPHA:952
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, 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
Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi... OMIM:164200
Temtamy Syndrome
Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum OMIM:218340
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A... ORPHA:3253
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... ORPHA:2457
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Micrognathia, Microdontia OMIM:112240
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
Bone Marrow Failure Syndrome 3
Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hernia, Hypodontia, Amelogene... OMIM:617052
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ... OMIM:253010
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Codas Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth ORPHA:1458
Short Syndrome
Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma... ORPHA:3163
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Macrodontia, Hypodontia, Vaginal hernia, Mandibular prognathia... ORPHA:2916
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia ORPHA:2728
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Dorsocervical fat pad, Micrognathia, Narrow mouth, Ol... ORPHA:391408
Xfe Progeroid Syndrome
Corneal scarring, Absence of subcutaneous fat, Premature loss of teeth, Enamel hypoplasia OMIM:610965
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decreased adipose tissue ... OMIM:608612
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Orofaciodigital Syndrome I
Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o... OMIM:311200
Scarf Syndrome
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia OMIM:312830
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... OMIM:119600
Knobloch Syndrome 2
Micrognathia, Enamel hypoplasia OMIM:618458
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... 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
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Isolated Cleft Lip
Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Hyp... ORPHA:199302
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
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
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ... ORPHA:438216
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Inguinal ... ORPHA:96263
Celiac Disease, Susceptibility To, 1
Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia OMIM:212750
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum OMIM:184260
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Developmental And Epileptic Encephalopathy 100
Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tented upper lip... OMIM:619777
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology, Camptodactyly of fi... ORPHA:3220
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel... OMIM:601701
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Gingivitis ORPHA:3194
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Malar ... ORPHA:439822
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Retrognathia, Microdontia OMIM:210720
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla... ORPHA:73223
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Microretrognathia OMIM:616294
Immunodeficiency 9
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis OMIM:612782
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Malar flattenin... OMIM:607812
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... 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, Agenesis of permanent teeth, Abnormality of primary teeth,... OMIM:150400
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Orofacial Cleft 15
Palate fistula, Inguinal hernia, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral... OMIM:616788
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Inguinal herni... ORPHA:1812
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Elbow flexion contracture, Micrognathia, Inguinal her... OMIM:151050
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Delayed eruption of teeth, Retrognathia, Umbilical hernia, Gingiva... OMIM:235510
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Pycnodysostosis
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... OMIM:265800
Trichothiodystrophy
High, narrow palate, Carious teeth, Retrognathia, Umbilical hernia, Absence of subcutaneous fat, ... ORPHA:33364
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Atrophic scars, Oral mucosal blisters, Scarring, Enamel hypoplasia ORPHA:79396
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Dental crowding, Inguinal hernia, Knee flexion contracture, Achilles t... OMIM:620545
Congenital Disorder Of Glycosylation, Type Iim
Thick vermilion border, Open mouth, Exaggerated cupid's bow, Fused teeth, Enamel hypoplasia, High... OMIM:300896
Cockayne Syndrome A
Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red... OMIM:216400
Sanjad-Sakati Syndrome
Abnormality of the dentition, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Thi... ORPHA:2323
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Cenani-Lenz Syndrome
High, narrow palate, Abnormal dental enamel morphology, Malar flattening, Hypodontia, Short philtrum ORPHA:3258
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele OMIM:600373
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology ORPHA:1334
Marshall Syndrome
Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Thick lower lip v... OMIM:154780
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia OMIM:614856
Costello Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Macro... ORPHA:3071
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia... ORPHA:96169
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis ORPHA:808
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathia, Malar flattening, Ab... ORPHA:85199
3M Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... ORPHA:2616
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Submucous cleft hard palate, Enamel agenesis, Thin u... OMIM:614701
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
Nail-Patella Syndrome
Elbow flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Knee f... ORPHA:2614
Treacher-Collins Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zyg... ORPHA:861
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow... OMIM:248370
Cranioectodermal Dysplasia 1
High, narrow palate, Widely spaced teeth, Inguinal hernia, Anodontia, Microdontia, Hypodontia, En... OMIM:218330
Porphyria, Congenital Erythropoietic
Erythrodontia, Joint contracture of the hand, Atypical scarring of skin, Corneal scarring OMIM:263700
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Inguinal hernia, Cleft palate, Enamel hypoplasia OMIM:272460
Congenital Syphilis
Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun... ORPHA:499009
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion OMIM:616202
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... ORPHA:666
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ... OMIM:252100
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot joint contracture, ... ORPHA:444072
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Hypoplasia of the tooth germ, Micrognathia, 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
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Microdo... ORPHA:289
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Camptodactyly of finger, Umbilical hernia, Abnormal dental ... ORPHA:2710
Cranioectodermal Dysplasia 3
Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion, Widely spaced teeth OMIM:614099
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Inguinal hernia, Paranasal sinus hypoplasia, High palate, Hypopla... OMIM:603457
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent... ORPHA:364577
W Syndrome
Upper lip pit, Broad uvula, Submucous cleft hard palate, Camptodactyly, 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
Dental crowding, Retrognathia, Long philtrum, Umbilical hernia, Micrognathia, Open mouth, Inguina... OMIM:620654
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Micr... ORPHA:2363
Rothmund-Thomson Syndrome
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... ORPHA:2909
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology ORPHA:251004
Rubinstein-Taybi Syndrome 1
High, narrow palate, Narrow palate, Hypoplasia of the maxilla, Keloids, Dental crowding, Retrogna... OMIM:180849
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Notched primary central incisor, Cleft lip OMIM:620519
Cockayne Syndrome
Carious teeth, Congenital contracture, Dental malocclusion, Contractures of the large joints, Age... ORPHA:191
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Micr... OMIM:268400
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta OMIM:616507
Orofaciodigital Syndrome Type 1
Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Hypoplasia of the ... ORPHA:2750
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Cockayne Syndrome Type 3
Flexion contracture, Carious teeth, Enamel hypoplasia ORPHA:90324
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Hepatoerythropoietic Porphyria
Erythrodontia, Scarring, Scarring alopecia of scalp ORPHA:95159
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Micrognathia, Malar flattening, Inguinal hernia OMIM:613848
Focal Dermal Hypoplasia
Abnormality of the dentition, Camptodactyly of finger, Open bite, Umbilical hernia, Abnormal dent... ORPHA:2092
Branchioskeletogenital Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c... ORPHA:1299
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Elsahy-Waters Syndrome
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... OMIM:211380
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Carious teeth, Periodontitis, Camptodactyly of finger, Abnormal dental... ORPHA:2908
Chand Syndrome
Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla... ORPHA:1401
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, E... OMIM:619503
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Microdontia, Delayed eruption of primary teeth, Absence of Stensen duct, Hypodonti... OMIM:149730
Incontinentia Pigmenti
Delayed eruption of teeth, Umbilical hernia, Camptodactyly of finger, Abnormal dental enamel morp... ORPHA:464
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Congenital dia... OMIM:305600
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis ORPHA:3353
Eec Syndrome
Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Microdontia, Taurodontia, Orofa... ORPHA:1896
Hypomagnesemia 3, Renal
Amelogenesis imperfecta, Enamel hypoplasia, Hypomature enamel OMIM:248250
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, A... ORPHA:534
Congenital Erythropoietic Porphyria
Increased connective tissue, Scarring, Scarring alopecia of scalp, Erythrodontia ORPHA:79277
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Erosion of oral mucosa, Enamel hypoplasia ORPHA:79404
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Rothmund-Thomson Syndrome Type 2
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221016
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Mandibular prognathia, Facial hyperostosis, Abnormal dental ena... ORPHA:2658
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221008
Mirage Syndrome
Hypospadias, Microphallus, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Carious teeth, Long philtrum, Atrophic scars, Micrognathia, Multiple j... ORPHA:536467
Tuberous Sclerosis 1
Dental enamel pits, Gingival fibromatosis, Shagreen patch OMIM:191100
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Camptodactyly of finger, Corneal scarring, Enamel hypoplasia OMIM:309000
X-Linked Hypophosphatemia
Cellulitis, Abnormal dentin morphology, Tooth abscess, Enthesitis, Odontodysplasia ORPHA:89936
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Pe... OMIM:601186
Cockayne Syndrome B
Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red... OMIM:133540
Stickler Syndrome
Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b... ORPHA:828
Smith-Lemli-Opitz Syndrome
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... ORPHA:818
Turnpenny-Fry Syndrome
Abnormality of the dentition, Dental malocclusion, Downturned corners of mouth, Dental crowding, ... OMIM:618371
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Long philtrum, ... ORPHA:363611
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Inguinal hernia, Long philtrum OMIM:620568
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Hypodontia, Talon cusp... ORPHA:353281
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology ORPHA:79430
Doors Syndrome
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ... ORPHA:79500
Pearson Syndrome
Bone marrow hypocellularity, Glycosuria, Exocrine pancreatic insufficiency, Pancytopenia, Abnorma... ORPHA:699
Holoprosencephaly 9
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ... OMIM:610829
Arboleda-Tham Syndrome
Mandibular prognathia, Microretrognathia, Downturned corners of mouth, Peg-shaped maxillary later... OMIM:616268
Tetrasomy 9P
Bifid uvula, Dental crowding, Downturned corners of mouth, Umbilical hernia, Abnormal dental enam... ORPHA:3310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Carious teeth, Dental crowding, Keloids, Natal tooth, Dental malocclusion, Corneal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Carious teeth, Dental crowding, Keloids, Natal tooth, Dental malocclusion, Corneal... ORPHA:353277
Pallister-Killian Syndrome
Bifid uvula, Camptodactyly of 2nd-5th fingers, Long philtrum, Umbilical hernia, Delayed eruption ... OMIM:601803
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Lipoma, S... ORPHA:733
22Q11.2 Deletion Syndrome
Abnormality of the dentition, Carious teeth, Long philtrum, Umbilical hernia, Abnormal dental ena... ORPHA:567
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat... OMIM:268305
Peters-Plus Syndrome
Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Umbilical hernia,... OMIM:261540
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Abnormal dental enamel morphology, Micrognathia, Congenital diaphragmatic hernia, M... ORPHA:2556
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Long philtrum OMIM:610682
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... OMIM:182250
Proximal Renal Tubular Acidosis
Enamel hypomineralization ORPHA:47159
Williams Syndrome
Carious teeth, Dental malocclusion, Hypoplasia of the zygomatic bone, Long philtrum, Umbilical he... ORPHA:904
Bloom Syndrome
Agenesis of maxillary lateral incisor, Malar flattening OMIM:210900
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Aplasia of the right hemidiaphragm, Widely spaced teeth, Ankyloglossia, Mi... OMIM:619841
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Omphalocele, Cheilitis ORPHA:2273
Proteus Syndrome
Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Open mouth, Abnormal subcutaneo... ORPHA:744
Alström Syndrome
Tooth agenesis, Dorsocervical fat pad, Recurrent sinusitis, Gingivitis, Abnormality of dental color ORPHA:64
Johanson-Blizzard Syndrome
Agenesis of permanent teeth, Hypoplasia of the primary teeth, Downturned corners of mouth, Long p... OMIM:243800
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Cleft upp... 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
Spleen - MPATH pathological entity term lymphoid hyperplasia Amtnem1(IMPC)Mbp HOM Early adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia Amtnem1(IMPC)Mbp HOM Early adult
Spleen - MPATH pathological process term hyperplasia Amtnem1(IMPC)Mbp HOM Early adult
Tooth - MPATH pathological process term hypoplasia Amtnem1(IMPC)Mbp HOM Early adult
Lymph node - 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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