Gene Summary

Name:
von Willebrand factor D and EGF domains
Synonyms:
LOC232585

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Vwde mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
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
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
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
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
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
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth OMIM:619787
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
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
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
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn... ORPHA:251393
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Steatocystoma Multiplex
Natal tooth OMIM:184500
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Carious teeth, Enamel hypoplasia OMIM:226700
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Tooth Agenesis, Selective, 3
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia OMIM:604625
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel OMIM:203550
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
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
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,... OMIM:618363
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
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
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... ORPHA:69087
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:226670
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... ORPHA:1515
48,Xyyy Syndrome
Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... OMIM:613823
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy... OMIM:253250
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Ramon Syndrome
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth ORPHA:3019
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth OMIM:212780
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... ORPHA:10
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia OMIM:270200
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Andersen-Tawil Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... ORPHA:37553
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar OMIM:302350
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Braddock-Carey Syndrome 1
Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u... OMIM:619980
Acrootoocular Syndrome
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel... ORPHA:2980
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ... ORPHA:90322
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Oculoskeletodental Syndrome
Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia ORPHA:557003
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia ORPHA:59303
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, H... ORPHA:582
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... ORPHA:1897
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Widely spaced teeth, Wide mouth, Exaggerated cupid's bow, Microdontia, Thin ... OMIM:619293
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Abnormal dental morphology OMIM:163200
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters OMIM:226730
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia OMIM:211900
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef... OMIM:618874
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Qazi-Markouizos Syndrome
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum ORPHA:3010
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... ORPHA:763
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ... OMIM:253000
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
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Flexion contracture, Hypoplasia of teeth, Accessory oral frenulum ORPHA:88630
Aredyld Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Abnormal dental enamel morphology, Narrow mouth... ORPHA:1133
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Inguinal ... ORPHA:96263
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate OMIM:613849
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Flexion... OMIM:226600
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Carious teeth, Widely spaced teeth, Grayish enamel, Inguinal hernia, Wide ... OMIM:253010
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg... OMIM:210600
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Atkin-Flaitz Syndrome
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... ORPHA:1193
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Cranioectodermal Dysplasia 4
Taurodontia, Smooth philtrum, Thin vermilion border OMIM:614378
Smith-Magenis Syndrome
Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar... ORPHA:819
Ohdo Syndrome
Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b... OMIM:249620
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Scarf Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ... ORPHA:3134
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology, Camptodactyly of fi... ORPHA:3220
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
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
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth OMIM:277440
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia OMIM:619718
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Malar flatteni... OMIM:259775
Oculodentodigital Dysplasia
Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi... OMIM:164200
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, High palate, Mandibular prognathia, Malar flattening ORPHA:2180
Hamamy Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypo... OMIM:611174
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... ORPHA:2107
Cockayne Syndrome Type 1
Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ... ORPHA:90321
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Wide mouth, Enamel hypoplasia, Abnormality of the dentition OMIM:615802
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite... OMIM:613684
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermilion border, Sh... OMIM:272440
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A... ORPHA:3253
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Specific Granule Deficiency 2
Tooth malposition, Conical tooth, Amelogenesis imperfecta OMIM:617475
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia OMIM:610706
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... ORPHA:2457
Temtamy Syndrome
Hypoplasia of teeth, Micrognathia, Dental crowding, Long philtrum OMIM:218340
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Bone Marrow Failure Syndrome 3
Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hernia, Hypodontia, Amelogene... OMIM:617052
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:1782
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Camptodactyly of finger, Umbilical hernia, Abnormal dental ... ORPHA:2710
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Orofaciodigital Syndrome I
Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o... OMIM:311200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Dorsocervical fat pad, Micrognathia, Narrow mouth, Ol... ORPHA:391408
Schimke Immuno-Osseous Dysplasia
Abnormal primary molar morphology, Hypodontia, Microdontia ORPHA:1830
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Premature loss of primary teeth, Premature loss of permanent teeth OMIM:146300
Short Syndrome
Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma... ORPHA:3163
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decreased adipose tissue ... OMIM:608612
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... ORPHA:1452
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... OMIM:119600
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Macrodontia, Hypodontia, Vaginal hernia, Mandibular prognathia... ORPHA:2916
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion OMIM:616202
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Micrognathia, Microdontia OMIM:112240
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ... OMIM:619719
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot joint contracture, ... ORPHA:444072
Codas Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth ORPHA:1458
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... ORPHA:666
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia ORPHA:2728
Porphyria, Congenital Erythropoietic
Erythrodontia, Joint contracture of the hand, Atypical scarring of skin, Corneal scarring OMIM:263700
Xfe Progeroid Syndrome
Corneal scarring, Absence of subcutaneous fat, Premature loss of teeth, Enamel hypoplasia OMIM:610965
Oslam Syndrome
Carious teeth ORPHA:2760
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Scarf Syndrome
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia OMIM:312830
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate OMIM:615502
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Kilquist Syndrome
Hypoplasia of teeth, Mandibular prognathia, Wide mouth OMIM:619080
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm... OMIM:305100
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi... OMIM:300602
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Developmental And Epileptic Encephalopathy 100
Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tented upper lip... OMIM:619777
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Malar ... ORPHA:439822
Congenital Syphilis
Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun... ORPHA:499009
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele OMIM:243150
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
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
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel... OMIM:601701
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Malar flattenin... OMIM:607812
Knobloch Syndrome 2
Micrognathia, Enamel hypoplasia OMIM:618458
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Retrognathia, Microdontia OMIM:210720
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Everted lower lip vermilion, A... ORPHA:534
Trichothiodystrophy
High, narrow palate, Carious teeth, Retrognathia, Umbilical hernia, Absence of subcutaneous fat, ... ORPHA:33364
Eec Syndrome
Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Microdontia, Taurodontia, Orofa... ORPHA:1896
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Gingivitis ORPHA:3194
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Lacrimoauriculodentodigital Syndrome 2
Hypodontia, Conical tooth, Carious teeth, Microdontia OMIM:620192
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Elbow flexion contracture, Micrognathia, Inguinal her... OMIM:151050
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, High palate, Microretrognathia OMIM:616294
Hepatoerythropoietic Porphyria
Erythrodontia, Scarring, Scarring alopecia of scalp ORPHA:95159
Cockayne Syndrome A
Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red... OMIM:216400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Inguinal herni... ORPHA:1812
Immunodeficiency 9
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis OMIM:612782
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko... ORPHA:1775
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... OMIM:619269
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla... ORPHA:73223
Pycnodysostosis
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... OMIM:265800
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Cenani-Lenz Syndrome
High, narrow palate, Abnormal dental enamel morphology, Malar flattening, Hypodontia, Short philtrum ORPHA:3258
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Sanjad-Sakati Syndrome
Abnormality of the dentition, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Thi... ORPHA:2323
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia... ORPHA:96169
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Atrophic scars, Oral mucosal blisters, Scarring, Enamel hypoplasia ORPHA:79396
Congenital Disorder Of Glycosylation, Type Iim
Thick vermilion border, Open mouth, Exaggerated cupid's bow, Fused teeth, Enamel hypoplasia, High... OMIM:300896
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:363417
Costello Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Macro... ORPHA:3071
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
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
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele OMIM:600373
Treacher-Collins Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Retrog... ORPHA:861
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia OMIM:614856
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathia, Malar flattening, Ab... ORPHA:85199
Cranioectodermal Dysplasia 1
High, narrow palate, Widely spaced teeth, Inguinal hernia, Anodontia, Microdontia, Hypodontia, En... OMIM:218330
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow... OMIM:248370
Nail-Patella Syndrome
Elbow flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Knee f... ORPHA:2614
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
3M Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... ORPHA:2616
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology ORPHA:1334
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Congenital Erythropoietic Porphyria
Increased connective tissue, Scarring, Scarring alopecia of scalp, Erythrodontia ORPHA:79277
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis ORPHA:808
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Inguinal hernia, Cleft palate, Enamel hypoplasia OMIM:272460
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Dental crowding, Retrognathia, Long philtrum, Umbilical hernia, Micrognathia, Open mouth, Inguina... OMIM:620654
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Hypoplasia of the tooth germ, Micrognathia, Contracture of the proximal interphalang... ORPHA:293967
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
Rubinstein-Taybi Syndrome 1
High, narrow palate, Narrow palate, Hypoplasia of the maxilla, Keloids, Dental crowding, Retrogna... OMIM:180849
Cockayne Syndrome
Carious teeth, Congenital contracture, Dental malocclusion, Contractures of the large joints, Age... ORPHA:191
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Inguinal hernia, Paranasal sinus hypoplasia, High palate, Hypopla... OMIM:603457
Cranioectodermal Dysplasia 3
Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion, Widely spaced teeth OMIM:614099
Orofaciodigital Syndrome Type 1
Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Hypoplasia of the ... ORPHA:2750
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Micr... OMIM:268400
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Branchioskeletogenital Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c... ORPHA:1299
Cockayne Syndrome Type 3
Flexion contracture, Carious teeth, Enamel hypoplasia ORPHA:90324
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Focal Dermal Hypoplasia
Abnormality of the dentition, Camptodactyly of finger, Open bite, Umbilical hernia, Abnormal dent... ORPHA:2092
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology ORPHA:251004
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... ORPHA:2409
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Micrognathia, Malar flattening, Inguinal hernia OMIM:613848
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, E... OMIM:619503
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Carious teeth, Periodontitis, Camptodactyly of finger, Abnormal dental... ORPHA:2908
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Congenital dia... OMIM:305600
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta OMIM:616507
Incontinentia Pigmenti
Delayed eruption of teeth, Umbilical hernia, Camptodactyly of finger, Abnormal dental enamel morp... ORPHA:464
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Rothmund-Thomson Syndrome Type 2
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221016
Hypomagnesemia 3, Renal
Amelogenesis imperfecta, Enamel hypoplasia, Hypomature enamel OMIM:248250
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Mandibular prognathia, Facial hyperostosis, Abnormal dental ena... ORPHA:2658
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Microdontia, Delayed eruption of primary teeth, Absence of Stensen duct, Hypodonti... OMIM:149730
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Carious teeth, Long philtrum, Atrophic scars, Micrognathia, Multiple j... ORPHA:536467
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... ORPHA:221008
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Erosion of oral mucosa, Enamel hypoplasia ORPHA:79404
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
Stickler Syndrome
Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b... ORPHA:828
Cockayne Syndrome B
Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red... OMIM:133540
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Smith-Lemli-Opitz Syndrome
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... ORPHA:818
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... OMIM:150400
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Camptodactyly of finger, Corneal scarring, Enamel hypoplasia OMIM:309000
Turnpenny-Fry Syndrome
Abnormality of the dentition, Dental malocclusion, Downturned corners of mouth, Dental crowding, ... OMIM:618371
X-Linked Hypophosphatemia
Cellulitis, Abnormal dentin morphology, Tooth abscess, Enthesitis, Odontodysplasia ORPHA:89936
Tuberous Sclerosis 1
Dental enamel pits, Gingival fibromatosis, Shagreen patch OMIM:191100
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Delayed eruption of teeth, Retrognathia, Umbilical hernia, Gingiva... OMIM:235510
Odontoonychodermal Dysplasia
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... OMIM:257980
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology ORPHA:79430
Tetrasomy 9P
Bifid uvula, Dental crowding, Downturned corners of mouth, Umbilical hernia, Abnormal dental enam... ORPHA:3310
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Pallister-Killian Syndrome
Bifid uvula, Camptodactyly of 2nd-5th fingers, Long philtrum, Umbilical hernia, Delayed eruption ... OMIM:601803
22Q11.2 Deletion Syndrome
Abnormality of the dentition, Carious teeth, Long philtrum, Umbilical hernia, Abnormal dental ena... ORPHA:567
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Microdo... ORPHA:289
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Lipoma, S... ORPHA:733
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Abnormal dental enamel morphology, Micrognathia, Congenital diaphragmatic hernia, M... ORPHA:2556
Alström Syndrome
Tooth agenesis, Dorsocervical fat pad, Recurrent sinusitis, Gingivitis, Abnormality of dental color ORPHA:64
Williams Syndrome
Carious teeth, Dental malocclusion, Hypoplasia of the zygomatic bone, Long philtrum, Umbilical he... ORPHA:904
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Notched primary central incisor, Cleft lip OMIM:620519
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... OMIM:182250
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Long philtrum OMIM:610682
Proximal Renal Tubular Acidosis
Enamel hypomineralization ORPHA:47159
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
Johanson-Blizzard Syndrome
Agenesis of permanent teeth, Hypoplasia of the primary teeth, Downturned corners of mouth, Long p... OMIM:243800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Vwde

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 Vwde.

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

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MGI Allele Allele Type Produced
Vwdetm379997(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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