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
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
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, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Taurodontism
Taurodontia OMIM:272700
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
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
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta OMIM:245660
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79405
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Enamel hypoplasia, Scarring alopecia of scalp, Lim... ORPHA:251393
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia OMIM:616029
17Q11.2 Microduplication Syndrome
Thin vermilion border, Malar flattening, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:139474
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Enamel hypoplasia OMIM:226700
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Trichoodontoonychial Dysplasia With Bone Deficiency
Anodontia, Enamel hypoplasia OMIM:275450
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars, Enamel hypoplasia ORPHA:79402
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Tooth Agenesis, Selective, 3
Oligodontia, Oligodontia of primary teeth, Microdontia, Agenesis of permanent molar OMIM:604625
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Thick vermilion border, Carious teeth, Enamel hypoplasia ORPHA:363523
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Usher Syndrome Type 2
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:231178
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia OMIM:261560
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Scarring alopecia of scalp, Carious teeth, Increased connective tissue, Enamel hypoplasia OMIM:226670
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microdontia of primar... OMIM:234250
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Carious teeth, Supernumerary tooth, Yellow-brown discoloration of the teeth, A... ORPHA:69087
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Malar flattening, Mandibular prognathia, Enamel hypoplasia OMIM:600991
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla... OMIM:601216
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita OMIM:217150
Pili Torti
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:2889
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Everted lower lip vermilion, Abnormal dental enamel morphology, Abnormal... ORPHA:1515
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Lichtenstein Syndrome
Carious teeth, Downturned corners of mouth, Enamel hypoplasia OMIM:246550
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
48,Xyyy Syndrome
High palate, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion, Irregularly spaced teeth ORPHA:99329
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Pseudohypoaldosteronism Type 2
Abnormality of the dentition, Abnormal dental enamel morphology ORPHA:757
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Hypodontia, Carious teeth, Oral mucosal blisters OMIM:226650
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Knee flexion contracture, Thin uppe... OMIM:600302
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Enamel hypoplasia OMIM:251190
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Ectodermal Dysplasia-Syndactyly Syndrome 1
Widely spaced teeth, Enamel hypoplasia, Conical tooth OMIM:613573
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Everted lower lip vermilion, Gingival bleeding, Micrognathia, Gingival hyperkeratosis... OMIM:225410
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Carious teeth, Micrognathia, Inguina... OMIM:618363
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Mulibrey Nanism
Hypoplastic frontal sinuses, Enamel hypoplasia, Hypodontia, Microglossia, Absent frontal sinuses,... OMIM:253250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Enamel hypoplasia, Pulp calcification OMIM:211900
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:3019
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia OMIM:612843
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Thick lower lip vermilion, Inguinal hernia, ... ORPHA:10
Usher Syndrome
Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:886
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Microdontia, Malar fla... OMIM:618727
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Enamel hypoplasia, Oligodontia, Antegonial notching of ma... OMIM:170390
Acrootoocular Syndrome
Delayed eruption of teeth, Supernumerary tooth, Micrognathia, High, narrow palate, Grayish enamel... ORPHA:2980
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Diastema, Screwdriver-shaped incisors OMIM:302350
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Oligodontia, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:37553
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Delayed eruption of teeth, Drooling, Enamel hypoplasia, Carious teeth, W... OMIM:619229
Cockayne Syndrome Type 2
Flexion contracture, Widely spaced primary teeth, Enamel hypoplasia, Delayed eruption of primary ... ORPHA:90322
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Microdontia, Retrognathia, Abnormality of the dentition ORPHA:557003
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Corneodermatoosseous Syndrome
Abnormality of the dentition, Hypomature dental enamel OMIM:122440
Pycnodysostosis
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... OMIM:265800
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Flexion contracture, Drooling, Enamel hypoplasia, Microdontia, Widely spaced teet... OMIM:619293
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental morphology, Abnormality of dental color OMIM:163200
Mucopolysaccharidosis Type 4
Hernia, Carious teeth, Grayish enamel, Abnormal dental enamel morphology, Abnormality of the dent... ORPHA:582
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Hypodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp ORPHA:59303
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Oligodontia, Hypodontia, Enamel hypoplasia OMIM:607626
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... OMIM:253000
Momo Syndrome
High palate, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Smooth philtrum... OMIM:157980
Mucopolysaccharidosis, Type Ivb
Carious teeth, Widely spaced teeth, Inguinal hernia, Grayish enamel, Mandibular prognathia, Wide ... OMIM:253010
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Mandibular prognathia, Dens in dente, Macrodontia OMIM:263540
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Short philtrum, Delayed eruption of teeth, High, narrow palate, Macrodontia, Taurodontia ORPHA:3214
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth ORPHA:3145
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia OMIM:226730
Qazi-Markouizos Syndrome
Drooling, Open mouth, Hypoplasia of teeth, High, narrow palate, Broad philtrum ORPHA:3010
Pycnodysostosis
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Micrognathia, Hypoplasia of the maxill... ORPHA:763
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Delayed eruption of permanent teeth, Dagger-shaped pulp calcifications, ... OMIM:204690
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Enamel hypoplasia, Misalignment of incisors, Oligodontia, Hypodontia, Dent... OMIM:619184
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... OMIM:257850
Momo Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Thick upper lip... ORPHA:2563
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Maxillary late... ORPHA:1193
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Malar flattening, Bilateral cleft lip and palate, Thin upper lip ... OMIM:618874
48,Xxxy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Inguinal hernia, Abnormal dental enamel morp... ORPHA:96263
Seckel Syndrome 1
High palate, Elbow flexion contracture, Enamel hypoplasia, Micrognathia, Selective tooth agenesis... OMIM:210600
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Mandibul... ORPHA:1133
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Carious teeth OMIM:604922
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia OMIM:612462
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Joi... OMIM:601668
Ohdo Syndrome
Narrow mouth, Long philtrum, Widely spaced teeth, Hypoplasia of teeth, Micrognathia, Smooth philt... OMIM:249620
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Raine Syndrome
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Micrognathia, Natal tooth, Malar flatt... OMIM:259775
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology ORPHA:3236
Scarf Syndrome
Long philtrum, Enamel hypoplasia, Hypocalcification of dental enamel, Inguinal hernia, Umbilical ... ORPHA:3134
Immunodeficiency 9
Amelogenesis imperfecta, Stomatitis, Recurrent aphthous stomatitis OMIM:612782
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Abnormal dental enamel morphology, Taurodontia, Camptodactyly of fi... ORPHA:3220
49,Xxxxy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Liang-Wang Syndrome
Everted lower lip vermilion, Macroglossia, Macrodontia of permanent maxillary central incisor, Th... OMIM:618729
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Flexion contracture, Corneal scarring, Enamel hypoplasia, Atrophic scars OMIM:226600
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Oculodentodigital Dysplasia
Broad alveolar ridges, Cleft upper lip, Enamel hypoplasia, Carious teeth, Microdontia, Joint cont... OMIM:164200
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Hypoplasia of ... ORPHA:50814
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Smith-Magenis Syndrome
Short philtrum, Cleft upper lip, Open mouth, Tented upper lip vermilion, Micrognathia, Delayed er... ORPHA:819
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Enamel hypoplasia, Hernia, Hypodontia, Microdontia, Micrognathia OMIM:617052
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Porphyria, Congenital Erythropoietic
Erythrodontia, Atypical scarring of skin, Corneal scarring, Abnormality of the mouth, Joint contr... OMIM:263700
Hall-Riggs Syndrome
Thick vermilion border, Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned ... ORPHA:2107
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Malar flattening, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:2180
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Delayed eruption of teeth, Enamel hypoplasia OMIM:277440
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, High palate, Flexion contracture, Decreased adipose tissue around neck, Loss of tru... OMIM:608612
Temtamy Syndrome
Hypoplasia of teeth, Dental crowding, Long philtrum, Micrognathia OMIM:218340
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia OMIM:614576
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Microdontia, Diastema, Agenesis of molar, Supernumerary tooth OMIM:619718
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Cockayne Syndrome Type 1
Widely spaced primary teeth, Contractures involving the joints of the feet, Abnormality of the de... ORPHA:90321
Intellectual Disability, Birk-Barel Type
Short philtrum, Contractures involving the joints of the feet, Open mouth, Tented upper lip vermi... ORPHA:166108
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Specific Granule Deficiency 2
Amelogenesis imperfecta, Tooth malposition, Conical tooth OMIM:617475
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Increased subcutaneous truncal adipose tissue, Contractu... ORPHA:2457
Tooth Agenesis, Selective, 4
Tooth agenesis, Peg-shaped maxillary lateral incisors OMIM:150400
Cleidocranial Dysplasia
High palate, Absent paranasal sinuses, Hypoplastic frontal sinuses, Enamel hypoplasia, Supernumer... OMIM:119600
Orofaciodigital Syndrome I
Tongue nodules, High palate, Agenesis of permanent teeth, Cleft upper lip, Enamel hypoplasia, Lob... OMIM:311200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Long philtrum, Oligodontia, Dorsocervical fat pad, Micrognathia, Hy... ORPHA:391408
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Hypodontia, Carious teeth, Micrognathia, Abnormality of dental morphology, Abnor... ORPHA:3253
Short Syndrome
Lipodystrophy, Microdontia, Abnormal mandible morphology, Inguinal hernia, Malar flattening, Abno... ORPHA:3163
Hypophosphatasia, Adult
Premature loss of primary teeth, Chondrocalcinosis, Carious teeth, Premature loss of permanent teeth OMIM:146300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia, Hypodontia, Abnormal dental enamel morphology, Mandibular prognathia, Macrodontia... ORPHA:2916
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth ORPHA:2728
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Widely-spaced maxillary central incisors, Thin upper lip vermilion, ... OMIM:619719
Schimke Immuno-Osseous Dysplasia
Abnormality of primary molar morphology, Hypodontia, Microdontia ORPHA:1830
Oculodentodigital Dysplasia
Broad alveolar ridges, Premature loss of primary teeth, Non-midline cleft lip, Carious teeth, Mic... ORPHA:2710
Dysostosis, Stanescu Type
Abnormal palate morphology, Carious teeth, Macroglossia, Hypoplasia of the maxilla, Abnormal dent... ORPHA:1798
Osteogenesis Imperfecta
Dental malocclusion, Flexion contracture, Delayed eruption of teeth, Carious teeth, Micrognathia,... ORPHA:666
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Wide mouth, Bifid uvula, Enamel hypoplasia OMIM:615802
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Cleidocranial Dysplasia
Sinusitis, Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary tooth, High, narrow... ORPHA:1452
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Conical tooth, Abnormal oral mucosa morphology, Hypodontia, Microdontia, Everted lower lip vermil... OMIM:305100
Scarf Syndrome
Inguinal hernia, Umbilical hernia, Long philtrum, Enamel hypoplasia OMIM:312830
Cerebellar-Facial-Dental Syndrome
Long philtrum, Contractures involving the joints of the feet, Micrognathia, Inguinal hernia, Alve... ORPHA:444072
Kilquist Syndrome
Xerostomia, Hypoplasia of teeth, Mandibular prognathia, Wide mouth OMIM:619080
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Cleft palate, Thin vermilion border, Incisor macrodontia OMIM:615502
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, High palate, Flexion contracture, Increased facial adipose tissue, Hypoplasia of t... OMIM:248370
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300602
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia ORPHA:289157
Oslam Syndrome
Carious teeth ORPHA:2760
Osteogenesis Imperfecta, Type Xi
Abnormality of the dentition, Dentinogenesis imperfecta OMIM:610968
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Corneal scarring, Premature loss of teeth, Enamel hypoplasia OMIM:610965
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Pde4D Haploinsufficiency Syndrome
Short philtrum, Long philtrum, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Abnorma... ORPHA:439822
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Enamel hypoplasia OMIM:243150
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Atypical scarring of skin, Oligodontia, Abnormal dental enamel morphology, Arthr... OMIM:601701
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Eec Syndrome
Carious teeth, Microdontia, Tooth agenesis, Abnormal dental enamel morphology, Taurodontia, Oral ... ORPHA:1896
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300431
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Delayed eruption of teeth, Non-midline cleft lip, Conical tooth, Hyp... ORPHA:1071
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Micrognathia ORPHA:2050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Microdontia, Retrognathia, Enamel hypoplasia OMIM:210720
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Trichothiodystrophy
Multiple joint contractures, Enamel hypoplasia, Carious teeth, High, narrow palate, Absence of su... ORPHA:33364
Hepatoerythropoietic Porphyria
Scarring, Erythrodontia, Scarring alopecia of scalp ORPHA:95159
Temtamy Preaxial Brachydactyly Syndrome
Microdontia, Deep philtrum, Talon cusp, Diastema, Cleft palate OMIM:605282
Celiac Disease, Susceptibility To, 1
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis OMIM:212750
Junctional Epidermolysis Bullosa With Pyloric Atresia
Oral mucosal blisters, Enamel hypoplasia ORPHA:79403
Corneodermatoosseous Syndrome
Gingivitis, Carious teeth, Abnormal dental enamel morphology ORPHA:3194
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Carious teeth, Hypoplasia of ... OMIM:607812
Oculocerebrorenal Syndrome Of Lowe
Long philtrum, Open bite, Everted lower lip vermilion, Micrognathia, Inguinal hernia, Mandibular ... ORPHA:534
Cockayne Syndrome A
Loss of facial adipose tissue, Atypical scarring of skin, Enamel hypoplasia, Carious teeth, Hypop... OMIM:216400
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Micrognathia, Maxillary lateral incisor microdontia, Conical incisor, Dental maloc... ORPHA:73223
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypocalcification of dental enamel, Amelogenesis imperfecta ORPHA:169090
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Cranioectodermal Dysplasia 1
High palate, Enamel hypoplasia, Hypodontia, Microdontia, Everted lower lip vermilion, Widely spac... OMIM:218330
Sanjad-Sakati Syndrome
Long philtrum, Micrognathia, Abnormal dental enamel morphology, Abnormality of the dentition, Thi... ORPHA:2323
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Oligodontia, Hypodontia, Microdontia, Micrognathia, Abnor... ORPHA:363417
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Delayed eruption of permanent teeth, Premature loss of teeth, Retrognathia, Dentin... OMIM:619269
Congenital Disorder Of Glycosylation, Type Iim
High palate, Short philtrum, Fused teeth, Enamel hypoplasia, Open mouth, Exaggerated cupid's bow,... OMIM:300896
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Smooth tongue, Enamel hypoplasia, Scarring, Atrophic scars ORPHA:79396
Cenani-Lenz Syndrome
Short philtrum, Hypodontia, High, narrow palate, Malar flattening, Abnormal dental enamel morphology ORPHA:3258
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Microdontia, Inguinal hernia, Abnormal dental enamel morphology, Retrognathia, Hypoplasia of the ... ORPHA:1812
Koolen-De Vries Syndrome
Hypodontia, Microdontia, Everted lower lip vermilion, High, narrow palate, Abnormal dental enamel... ORPHA:96169
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta OMIM:610319
Codas Syndrome
Omphalocele, Delayed eruption of teeth, Enamel hypoplasia OMIM:600373
Nail-Patella Syndrome
Achilles tendon contracture, Flexion contracture, Contracture of the distal interphalangeal joint... ORPHA:2614
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Smooth philtrum, Enamel... OMIM:614701
Costello Syndrome
Thick lower lip vermilion, Macroglossia, Abnormal dental enamel morphology, Abnormality of the de... ORPHA:3071
Treacher-Collins Syndrome
Narrow mouth, High palate, Cleft upper lip, Open bite, Micrognathia, Hypoplasia of the maxilla, A... ORPHA:861
Congenital Erythropoietic Porphyria
Scarring, Erythrodontia, Scarring alopecia of scalp, Increased connective tissue ORPHA:79277
Osteogenesis Imperfecta, Type X
Inguinal hernia, Dentinogenesis imperfecta, Malar flattening, Micrognathia OMIM:613848
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormality of the mouth, Abnormal dental enamel morphology, Abnormal lip morphology ORPHA:1334
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Micrognathia, Abnormality of dental morphology, Wide mouth, Abnormal ... ORPHA:85199
Dyskeratosis Congenita
Oral leukoplakia, Hypodontia, Carious teeth, Periodontitis, Hypoplasia of the maxilla, Abnormalit... ORPHA:1775
3M Syndrome
Abnormal dental enamel morphology, Everted lower lip vermilion, Long philtrum, Delayed eruption o... ORPHA:2616
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Bifid uvula, Enamel hypoplasia, Hypodontia, Microdontia, Cari... ORPHA:2363
Bosma Arhinia Microphthalmia Syndrome
High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, Cleft lip, Inguinal hernia, Dental ... OMIM:603457
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Microdontia, Supernumerary tooth, Hypoplasia of teeth, ... ORPHA:2909
Cranioectodermal Dysplasia 3
Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia OMIM:614099
Seckel Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia ORPHA:808
Stuve-Wiedemann Syndrome 1
Contracture of the proximal interphalangeal joint of the 5th finger, Smooth tongue, Micrognathia,... OMIM:601559
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600906
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Enamel hypoplasia ORPHA:79444
Acrocallosal Syndrome
High palate, Short philtrum, Cleft upper lip, Long philtrum, Open mouth, Hypoplasia of teeth, Ing... OMIM:200990
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Contracture of the proximal interphalangeal joint of the 5th finger, Micrognathia, H... ORPHA:293967
Cockayne Syndrome
Agenesis of permanent teeth, Enamel hypoplasia, Contractures of the large joints, Carious teeth, ... ORPHA:191
Spondylocarpotarsal Synostosis Syndrome
Inguinal hernia, Failure of eruption of permanent teeth, Cleft palate, Enamel hypoplasia OMIM:272460
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Rothmund-Thomson Syndrome, Type 2
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Microdontia, Supernumerary t... OMIM:268400
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Orofaciodigital Syndrome Type 1
Accessory oral frenulum, High palate, Broad alveolar ridges, Tongue nodules, Open bite, Lobulated... ORPHA:2750
Branchioskeletogenital Syndrome
Short philtrum, Bifid uvula, Rootless teeth, Unilateral cleft palate, Carious teeth, Abnormal den... ORPHA:1299
Lowry-Maclean Syndrome
Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Delayed eruption of primary teeth, ... ORPHA:2409
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Enamel hypoplasia ORPHA:79443
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology ORPHA:251004
Cockayne Syndrome Type 3
Carious teeth, Flexion contracture, Enamel hypoplasia ORPHA:90324
Focal Dermal Hypoplasia
Camptodactyly of finger, Open bite, Hernia, Congenital diaphragmatic hernia, Inguinal hernia, Abn... ORPHA:2092
Focal Dermal Hypoplasia
Hiatus hernia, Cleft upper lip, Delayed eruption of teeth, Enamel hypoplasia, Oligodontia, Hypodo... OMIM:305600
Lacrimoauriculodentodigital Syndrome
Absence of Stensen duct, Enamel hypoplasia, Hypodontia, Carious teeth, Conical incisor, Delayed e... OMIM:149730
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Short philtrum, Open mouth, Malar flattening, Mandibular prognathia, Narrow pala... ORPHA:364028
Rubinstein-Taybi Syndrome 1
Narrow mouth, High palate, Keloids, Flexion contracture, Enamel hypoplasia, Micrognathia, Abnorma... OMIM:180849
Kindler Epidermolysis Bullosa
Premature loss of primary teeth, Flexion contracture, Atypical scarring of skin, Periodontitis, C... ORPHA:2908
Rothmund-Thomson Syndrome Type 2
High palate, Delayed eruption of teeth, Carious teeth, Microdontia, Abnormal dental enamel morpho... ORPHA:221016
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Narrow mouth, High palate, Agenesis of permanent teeth, Flexion contracture, Delayed eruption of ... OMIM:619503
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Carious teeth, Microdontia, Abnormal dental enamel morphology, Tooth a... ORPHA:221008
Incontinentia Pigmenti
Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Abnormal dental enamel m... ORPHA:464
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, High, narrow palate, Facial hyperostosis, Submucous cleft hard palate, Inguinal hern... ORPHA:2658
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Enamel hypoplasia ORPHA:79404
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Camptodactyly of finger, Enamel hypoplasia OMIM:309000
Marshall Syndrome
Pierre-Robin sequence, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Micro... OMIM:154780
X-Linked Hypophosphatemia
Cellulitis, Odontodysplasia, Tooth abscess, Abnormal dentin morphology, Enthesitis ORPHA:89936
Cockayne Syndrome B
Loss of facial adipose tissue, Atypical scarring of skin, Carious teeth, Hypoplasia of teeth, Red... OMIM:133540
Stickler Syndrome
Cleft upper lip, Long philtrum, Open bite, Micrognathia, Macroglossia, Hypoplasia of the maxilla,... ORPHA:828
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, ... ORPHA:438216
Hypophosphatemic Rickets
Periapical tooth abscess, Craniofacial asymmetry, Odontodysplasia, Craniofacial osteosclerosis, T... ORPHA:437
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Long philtrum, Multiple joint contractures, Microdontia, Carious teeth, Micrognathia... ORPHA:536467
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Dentinogenesis imperfecta OMIM:610915
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow mouth, Delayed eruption of teeth, Oligodontia, Conical incisor, Malar flattening, Retrogna... OMIM:235510
Smith-Lemli-Opitz Syndrome
Long philtrum, Supernumerary tooth, Bifid tongue, Micrognathia, Congenital diaphragmatic hernia, ... ORPHA:818
Tuberous Sclerosis 1
Dental enamel pits, Gingival fibromatosis, Shagreen patch OMIM:191100
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Impaired mastication, Retrognathia ORPHA:466722
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology ORPHA:79430
22Q11.2 Deletion Syndrome
Narrow mouth, Short philtrum, Long philtrum, Carious teeth, Micrognathia, Inguinal hernia, Malar ... ORPHA:567
Tetrasomy 9P
Amelogenesis imperfecta, High palate, Bifid uvula, Abnormal number of permanent teeth, Short phil... ORPHA:3310
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Abnormal oral mucosa morphology, Hypodon... ORPHA:289
Pallister-Killian Syndrome
Bifid uvula, Flexion contracture, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Al... OMIM:601803
Familial Adenomatous Polyposis
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Lipoma, Abnormal cementum mo... ORPHA:733
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Micrognathia, Mandibular aplasia, Abnormal dental enamel morphol... ORPHA:2556
Alström Syndrome
Tooth agenesis, Dorsocervical fat pad, Recurrent sinusitis, Abnormality of dental color, Gingivitis ORPHA:64
Singleton-Merten Syndrome 1
Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Hypoplasia of the maxilla, Smooth ... OMIM:182250
Williams Syndrome
Long philtrum, Open bite, Hypodontia, Carious teeth, Thick lower lip vermilion, Everted lower lip... ORPHA:904
Proximal Renal Tubular Acidosis
Enamel hypomineralization ORPHA:47159
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Inguinal hernia, Cheilitis, Omphalocele, Abnormal dental enamel morphology, Camptodactyly of finger ORPHA:2273
Proteus Syndrome
Carious teeth, Lipoma, Abnormal subcutaneous fat tissue distribution, Abnormal dental enamel morp... ORPHA:744
Non-Specific Syndromic Intellectual Disability
Narrow mouth, High palate, Long philtrum, Micrognathia, Smooth philtrum, Thin vermilion border, I... ORPHA:528084
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Hypodontia, Carious teeth, Supernumerary tooth, Natal tooth, Dental crowding, Talon cusp... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Keloids, Corneal scarring, Hypodontia, Carious teeth, Supernumerary tooth, Micrognat... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Keloids, Corneal scarring, Hypodontia, Carious teeth, Supernumerary tooth, Micrognat... ORPHA:353277
Peters-Plus Syndrome
Cleft upper lip, Long philtrum, Thin upper lip vermilion, Widely spaced teeth, Exaggerated cupid'... 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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