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
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia OMIM:226650
Epidermolysis Bullosa, Junctional 4, Intermediate
Scarring alopecia of scalp, Dental enamel pits, Carious teeth OMIM:619787
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters, Carious teeth ORPHA:79406
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth ORPHA:79405
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... ORPHA:3352
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin... ORPHA:251393
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
17Q11.2 Microduplication Syndrome
Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Atrophic scars, Carious teeth OMIM:226700
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
Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars ORPHA:79402
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Thick vermilion border, Carious teeth ORPHA:363523
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Usher Syndrome Type 2
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:231178
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Trichodental Dysplasia
Odontodysplasia, Conical tooth, Hypodontia OMIM:601453
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... ORPHA:1031
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d... ORPHA:69087
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening OMIM:600991
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, Enam... OMIM:234250
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental... ORPHA:2325
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Cleft palate OMIM:217150
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
48,Xyyy Syndrome
High palate, Irregularly spaced teeth, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion ORPHA:99329
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Scarring alopecia of scalp, Increased connective tissue, Carious teeth OMIM:226670
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Micrognathia OMIM:251190
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M... OMIM:618363
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Inguinal hernia, Everted lower lip verm... OMIM:225410
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Mulibrey Nanism
Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,... OMIM:253250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Taurodontia, Pulp calcification OMIM:211900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Ramon Syndrome
Delayed eruption of teeth, Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology ORPHA:3019
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth OMIM:612843
Usher Syndrome
Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth ORPHA:886
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
48,Xxyy Syndrome
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... ORPHA:10
Andersen-Tawil Syndrome
High palate, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Oligodonti... ORPHA:37553
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Supernumerary tooth, High, narrow palate, Micrognathia, Delayed e... ORPHA:2980
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Camptodactyly, Enamel hy... OMIM:619980
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Cockayne Syndrome Type 2
Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Flexion contracture, Ena... ORPHA:90322
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Kohlschutter-Tonz Syndrome-Like
Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced teeth, Yellow-brown di... OMIM:619229
Oculocerebrodental Syndrome
Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia ORPHA:557003
Pyle Disease
Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs... OMIM:265900
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology ORPHA:59303
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Grayish enamel, Carious teeth, Hernia, Abnormal dental ... ORPHA:582
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental morphology, Abnormality of dental color OMIM:163200
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia OMIM:300636
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Oligodontia, Hypodontia OMIM:607626
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Microdontia, Enamel hypopla... OMIM:619293
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p... OMIM:157980
Mucopolysaccharidosis, Type Ivb
Wide mouth, Inguinal hernia, Grayish enamel, Carious teeth, Widely spaced teeth, Mandibular progn... OMIM:253010
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia OMIM:263540
Amelogenesis Imperfecta, Type Ig
Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o... OMIM:204690
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth ORPHA:3214
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth ORPHA:3145
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten... OMIM:170390
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters, Arthrogryposis multiplex congenita, Atrophic scars OMIM:226730
Corneodermatoosseous Syndrome
Hypomature dental enamel OMIM:122440
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth ORPHA:3010
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Hypodontia, Cleft palate, Oligodontia, Enamel hypoplasia, Thick vermilion border... OMIM:619184
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Malar flattening, Bilateral cleft lip and palate, Enamel hypoplasia, Ankyloglossia, ... OMIM:618874
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Mucopolysaccharidosis, Type Iva
Wide mouth, Inguinal hernia, Grayish enamel, Carious teeth, Widely spaced teeth, Mandibular progn... OMIM:253000
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... ORPHA:2563
Atkin-Flaitz Syndrome
Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... ORPHA:1193
48,Xxxy Syndrome
Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ... ORPHA:96263
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Advanced... ORPHA:1133
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors OMIM:610706
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth ORPHA:1811
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Elbow flexion co... OMIM:210600
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Hypoplasia... OMIM:249620
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Conical mandibular inci... OMIM:601668
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At... OMIM:226600
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Immunodeficiency 9
Stomatitis, Amelogenesis imperfecta, Recurrent aphthous stomatitis OMIM:612782
Scarf Syndrome
Inguinal hernia, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcification of dental ... ORPHA:3134
Cranioectodermal Dysplasia 4
Thin vermilion border, Taurodontia, Smooth philtrum OMIM:614378
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Camptodactyly of finger, Taurodontia, Abnormal dental enamel morpho... ORPHA:3220
49,Xxxxy Syndrome
Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Mandibular progna... ORPHA:96264
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Short philtrum, Tented upper lip vermil... ORPHA:819
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Oculodentodigital Dysplasia
Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ... OMIM:164200
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
Bone Marrow Failure Syndrome 3
Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hernia, Amelogenesis imperfecta OMIM:617052
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth OMIM:277440
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Mandibular prognathia, Malar flattening, Abnormal dental enamel morphology ORPHA:2180
Hamamy Syndrome
High palate, Wide mouth, Dental malocclusion, Hypodontia, Inguinal hernia, Everted lower lip verm... OMIM:611174
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Micro... OMIM:259775
Hall-Riggs Syndrome
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Thick vermilion border, Abnor... ORPHA:2107
Temtamy Syndrome
Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum OMIM:218340
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Serrated incisors, Abnormality of... OMIM:272440
Cockayne Syndrome Type 1
Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Abnormality of the denti... ORPHA:90321
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... ORPHA:166108
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia OMIM:614576
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Porphyria, Congenital Erythropoietic
Corneal scarring, Atypical scarring of skin, Erythrodontia, Joint contracture of the hand OMIM:263700
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia OMIM:619718
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Mandibuloacral Dysplasia
High palate, Increased adipose tissue around the neck, Dental crowding, Lipoatrophy, Micrognathia... ORPHA:2457
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1782
Specific Granule Deficiency 2
Amelogenesis imperfecta, Conical tooth, Tooth malposition OMIM:617475
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Carious teeth... ORPHA:3253
Cleidocranial Dysplasia 1
High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft palate, Malar flatten... OMIM:119600
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Micrognathia, Short philtrum, Oligodontia, Long philtrum, Downturned corners of mou... ORPHA:391408
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Premature loss of teeth, Narrow mouth, Dental crowding, Flexion contracture, Microgn... OMIM:608612
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Microretrognathia, Supernumerary tooth, ... OMIM:311200
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Wide mouth, Bifid uvula, Abnormality of the dentition OMIM:615802
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Macrodontia, Vaginal hernia, Mandibular prognathia, Abnormal dental ena... ORPHA:2916
Short Syndrome
Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno... ORPHA:3163
Dysostosis, Stanescu Type
Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo... ORPHA:1798
Oculodentodigital Dysplasia
Tooth agenesis, Taurodontia, Cleft palate, Broad alveolar ridges, Micrognathia, Camptodactyly of ... ORPHA:2710
Schimke Immuno-Osseous Dysplasia
Hypodontia, Microdontia, Abnormality of primary molar morphology ORPHA:1830
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Hypoplasia of teeth, Microdontia, Cleft palate ORPHA:2728
Hypophosphatasia, Adult
Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth OMIM:146300
Osteogenesis Imperfecta
Dental malocclusion, Dentinogenesis imperfecta, Inguinal hernia, Flexion contracture, Abnormality... ORPHA:666
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Codas Syndrome
Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:1458
Cleidocranial Dysplasia
Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor... ORPHA:1452
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Incisor macrodontia, Widely-spaced maxillary central incisors, Thin upper li... OMIM:619719
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Scarf Syndrome
Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia OMIM:312830
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Xfe Progeroid Syndrome
Corneal scarring, Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia OMIM:610965
Oslam Syndrome
Carious teeth ORPHA:2760
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth ORPHA:289157
Pde4D Haploinsufficiency Syndrome
Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the maxilla, Mandibu... ORPHA:439822
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Taurodontia, Hypodontia, Everted lower lip vermilion, Microdontia, Abnormal oral mucosa morpholog... OMIM:305100
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... OMIM:200990
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Micrognathia, Microdontia, Enamel hypoplasia, Bilateral camptod... OMIM:619777
Kilquist Syndrome
Wide mouth, Hypoplasia of teeth, Mandibular prognathia OMIM:619080
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele OMIM:243150
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Joint contracture of the hand, Cleft palate, Oligodontia, Oral cleft, Camptodact... OMIM:601701
Cole-Carpenter Syndrome
Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W... ORPHA:1071
Odontochondrodysplasia 1
Long philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta OMIM:184260
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Enamel hypoplasia, Microdontia OMIM:210720
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Stomatitis, Recurrent aphthous stomatitis OMIM:212750
Hepatoerythropoietic Porphyria
Scarring, Scarring alopecia of scalp, Erythrodontia ORPHA:95159
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... ORPHA:73223
Trichothiodystrophy
Multiple joint contractures, High, narrow palate, Retrognathia, Carious teeth, Enamel hypoplasia,... ORPHA:33364
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Eec Syndrome
Tooth agenesis, Taurodontia, Cleft palate, Microdontia, Carious teeth, Oral cleft, Abnormal denta... ORPHA:1896
Corneodermatoosseous Syndrome
Gingivitis, Abnormal dental enamel morphology, Carious teeth ORPHA:3194
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Cleft palate, Malar flattening, Long philtrum, Delayed eruption of teeth... OMIM:607812
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp OMIM:605282
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Umbilical hern... ORPHA:534
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Dental malocclusion, Hip contracture, Carious teeth, Enamel ... OMIM:216400
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Congenital Disorder Of Glycosylation, Type Iim
High palate, Short philtrum, Enamel hypoplasia, Exaggerated cupid's bow, Open mouth, Thick vermil... OMIM:300896
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta ORPHA:169090
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru... OMIM:265800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cleft palate, Inguinal hernia, Retrognathia, Microdontia, Hypoplasia of the zygomatic bone, Abnor... ORPHA:1812
Sanjad-Sakati Syndrome
Thin vermilion border, Abnormality of the dentition, Micrognathia, Long philtrum, Abnormal dental... ORPHA:2323
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Enamel hypoplasia, Smooth tongue, Atrophic scars, Scarring ORPHA:79396
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Delayed eruption... OMIM:619269
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Prema... OMIM:248370
Cenani-Lenz Syndrome
Hypodontia, Malar flattening, High, narrow palate, Short philtrum, Abnormal dental enamel morphology ORPHA:3258
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Cleft palate, Hypodontia, Everted lower lip vermilion, Abnorm... ORPHA:96169
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... ORPHA:363417
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Dyskeratosis Congenita
Periodontitis, Taurodontia, Hypodontia, Abnormality of the dentition, Carious teeth, Hypoplasia o... ORPHA:1775
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Long philtrum, Enamel agenesis... OMIM:614701
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Omphalocele OMIM:600373
Cranioectodermal Dysplasia 1
High palate, Anodontia, High, narrow palate, Hypodontia, Everted lower lip vermilion, Inguinal he... OMIM:218330
Nail-Patella Syndrome
Flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Enamel hypop... ORPHA:2614
Costello Syndrome
Narrow palate, Macroglossia, Abnormality of the dentition, Abnormal dental enamel morphology, Thi... ORPHA:3071
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Congenital Erythropoietic Porphyria
Scarring, Scarring alopecia of scalp, Erythrodontia, Increased connective tissue ORPHA:79277
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Wide mouth, Cleft palate, Malar flattening, Micrognathia, Thick vermi... ORPHA:85199
Osteogenesis Imperfecta, Type X
Micrognathia, Inguinal hernia, Dentinogenesis imperfecta, Malar flattening OMIM:613848
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
3M Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip ve... ORPHA:2616
Seckel Syndrome
Micrognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:808
Rothmund-Thomson Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Abnormality of the dentition, Delayed eru... ORPHA:2909
Cranioectodermal Dysplasia 3
Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Everted lower lip vermilion OMIM:614099
Lacrimoauriculodentodigital Syndrome
Hypodontia, Abnormality of the dentition, Micrognathia, Microdontia, Bifid uvula, Abnormal saliva... ORPHA:2363
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Inguinal hernia, Cleft palate, Failure of eruption of permanent teeth OMIM:272460
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Micrognathia, Bifid uvula, Hypoplasia of the tooth germ, Contracture of the proximal interphalang... ORPHA:293967
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology ORPHA:1334
Rubinstein-Taybi Syndrome 1
High palate, Dental malocclusion, Narrow mouth, Narrow palate, High, narrow palate, Cleft palate,... OMIM:180849
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
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Inguinal hernia, Clef... OMIM:603457
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Dental malocclusion, Abnormal number of teeth, Agenesis of p... ORPHA:191
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Rothmund-Thomson Syndrome, Type 2
High palate, Supernumerary tooth, Micrognathia, Agenesis of permanent teeth, Delayed eruption of ... OMIM:268400
Orofaciodigital Syndrome Type 1
High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Hypodontia, Cleft palate... ORPHA:2750
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Branchioskeletogenital Syndrome
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif... ORPHA:1299
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognathia, Micrognathia, I... ORPHA:2409
Cockayne Syndrome Type 3
Enamel hypoplasia, Flexion contracture, Carious teeth ORPHA:90324
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology ORPHA:251004
Focal Dermal Hypoplasia
Tooth agenesis, Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Open bite, I... ORPHA:2092
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Focal Dermal Hypoplasia
Cleft upper lip, Dental malocclusion, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal he... OMIM:305600
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Flexion contracture, Camptodactyly of finger, Premature loss of primary... ORPHA:2908
Lacrimoauriculodentodigital Syndrome
Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Carious teeth, Enamel hypoplas... OMIM:149730
Rothmund-Thomson Syndrome Type 2
High palate, Tooth agenesis, Cleft palate, Abnormality of the dentition, Microdontia, Delayed eru... ORPHA:221016
Incontinentia Pigmenti
Hypodontia, Camptodactyly of finger, Delayed eruption of teeth, Oral cleft, Umbilical hernia, Abn... ORPHA:464
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Narrow mouth, Hip contracture, Reduced subcutaneous adipose tissue, Flex... OMIM:619503
Rothmund-Thomson Syndrome Type 1
Tooth agenesis, Abnormality of the dentition, Delayed eruption of teeth, Microdontia, Carious tee... ORPHA:221008
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, High, narrow palate, Cleft palate, Inguinal hernia, Bifid uvula, Femoral hernia, Faci... ORPHA:2658
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormal oral mucosa morphology, Erosion of oral mucosa ORPHA:79404
Tooth Agenesis, Selective, 4
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Peg-shaped maxillary l... OMIM:150400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Dentinogenesis imperfecta, Micrognathia, Long philtrum,... ORPHA:536467
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dental malocclusion, Carious teeth, Atypical scarring of ski... OMIM:133540
Hypophosphatemic Rickets
Periapical tooth abscess, Abnormality of the dentition, Craniofacial asymmetry, Odontodysplasia, ... ORPHA:437
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Joint contracture of the hand OMIM:309000
X-Linked Hypophosphatemia
Cellulitis, Odontodysplasia, Enthesitis, Tooth abscess, Abnormal dentin morphology ORPHA:89936
Stickler Syndrome
Cleft upper lip, Tooth agenesis, Cleft palate, Open bite, Glossoptosis, Micrognathia, Malar flatt... ORPHA:828
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Tented upper lip vermilion, Incisor macrodontia, Abnormality of primary teeth, Thin ... ORPHA:438216
Smith-Lemli-Opitz Syndrome
Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Congenital diaphragmatic he... ORPHA:818
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Gingival overgrowth, Narrow mouth, Narrow palate, Joint contracture of the hand, Malar flattening... OMIM:235510
Tuberous Sclerosis 1
Shagreen patch, Gingival fibromatosis, Dental enamel pits OMIM:191100
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Hypodontia, Agenesis of permanent teeth, Smooth tongue, Abnormality ... OMIM:257980
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology ORPHA:79430
22Q11.2 Deletion Syndrome
Narrow mouth, Malar flattening, Inguinal hernia, Cleft palate, Abnormality of the dentition, Shor... ORPHA:567
Tetrasomy 9P
High palate, Abnormal number of permanent teeth, Cleft palate, Micrognathia, Short philtrum, Bifi... ORPHA:3310
Ellis Van Creveld Syndrome
Hypodontia, Thin vermilion border, Abnormality of the dentition, Delayed eruption of teeth, Micro... ORPHA:289
Pallister-Killian Syndrome
Alveolar ridge overgrowth, Wide mouth, Congenital diaphragmatic hernia, Cleft palate, Flexion con... OMIM:601803
Familial Adenomatous Polyposis
Eruption failure, Lipoma, Abnormal cementum morphology, Supernumerary tooth, Abnormality of the d... ORPHA:733
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Mandibular aplasia, Abnormal dental ... ORPHA:2556
Alström Syndrome
Tooth agenesis, Recurrent sinusitis, Gingivitis, Dorsocervical fat pad, Abnormality of dental color ORPHA:64
Singleton-Merten Syndrome 1
Eruption failure, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla, Thin up... OMIM:182250
Williams Syndrome
Wide mouth, Dental malocclusion, Gingival overgrowth, Hypodontia, Inguinal hernia, Open bite, Eve... ORPHA:904
Proximal Renal Tubular Acidosis
Enamel hypomineralization ORPHA:47159
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Inguinal hernia, Camptodactyly of finger, Omphalocele, Abnormal dental enamel morphology ORPHA:2273
Proteus Syndrome
Lipoma, Tooth agenesis, Carious teeth, Abnormal subcutaneous fat tissue distribution, Abnormal de... ORPHA:744
Non-Specific Syndromic Intellectual Disability
High palate, Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Incisor macrodonti... ORPHA:528084
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental malocclusion, Narrow palate, Supernumerary tooth, Hypodontia, Carious teeth, Keloids, Nata... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Dental malocclusion, Corneal scarring, Narrow palate, Supernumerary tooth, Hypodonti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Dental malocclusion, Corneal scarring, Narrow palate, Supernumerary tooth, Hypodonti... ORPHA:353277
Peters-Plus Syndrome
Cleft upper lip, Cleft palate, Thin vermilion border, Micrognathia, Long philtrum, Short lingual ... OMIM:261540
Johanson-Blizzard Syndrome
Agenesis of permanent teeth, Hypoplasia of the primary teeth OMIM:243800

Histopathology

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

There is no histopathology data for 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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