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Gene: Lama3 MGI:99909

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
laminin, alpha 3
Synonyms:
nicein, 150kDa,  [a]3B

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Lama3 mutations

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

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

The table below shows human diseases associated to Lama3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Apla... ORPHA:79402
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta OMIM:245660
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Failure to thrive, Abnormal oral mucosa morphology, Skin erosion, Esophag... ORPHA:79404
Epidermolysis Bullosa, Junctional 2A, Intermediate
Oral mucosal blisters OMIM:619783
Epidermolysis Bullosa, Junctional 2B, Severe
Oral mucosal blisters OMIM:619784

The table below shows human diseases predicted to be associated to Lama3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Gastrointestinal infla... ORPHA:79410
Darier Disease
Macule, Hypermelanotic macule, Acrokeratosis, Plantar pits, Anal mucosal leukoplakia, Palmoplanta... ORPHA:218
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Pyloric stenosis, Congenital localized absence of skin, Atrophic scars, Enamel hyp... OMIM:226700
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Apla... ORPHA:79402
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia... OMIM:226650
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis OMIM:615328
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Localized skin lesion, Gastrointestinal inflammation, Atrop... ORPHA:79405
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Increased body weight, Facial erythema, Erythematous plaque, Sk... ORPHA:64745
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Palmar pits, Digital pitting scar, ... ORPHA:79145
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Localized skin lesion, Gastrointestinal inflammation, Atrop... ORPHA:79406
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology ORPHA:254478
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Skin erosion, Gastrointestinal inflammation, Atrophic scars... ORPHA:79411
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... OMIM:616029
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:613576
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Acantholysis, Erythema, Oral ulcer, Erythematous plaque, Serpigi... ORPHA:79481
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Oral mucosal blisters, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle ORPHA:158681
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Iga Pemphigus
Acantholysis, Oral mucosal blisters, Ulcerative colitis, Annular cutaneous lesion, Skin vesicle, ... ORPHA:555905
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmoplantar hyperkeratos... OMIM:226670
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Pemphigoid Gestationis
Skin vesicle, Failure to thrive ORPHA:63275
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin vesicle, ... ORPHA:257
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... ORPHA:251393
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Scarring alopecia of scalp, Dental enamel pits, Macular hyperpigmented dermopathy OMIM:619787
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border, Palmoplantar hyperkeratosis ORPHA:363523
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Localized skin lesion, Gastrointestin... ORPHA:79409
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... OMIM:618363
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Abnormal dental morphology, Interphalangeal joint contracture of finger... ORPHA:69087
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Hall-Riggs Syndrome
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... OMIM:234250
Dermatitis Herpetiformis
Macule, Skin vesicle, Erythema, Malabsorption ORPHA:1656
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Inflammation of the large intestine, Skin vesicle, Papule ORPHA:48104
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Scarring alopecia of scalp, Facial erythema, Palmoplantar keratoderma, Enamel hypo... OMIM:612843
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Esophageal atresia, Congenital ... OMIM:226730
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Dyskeratosis Congenita
Macule, Esophageal stenosis, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Abnormality o... ORPHA:1775
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Skin ulcer, Ce... ORPHA:2314
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Wells Syndrome
Skin vesicle, Cellulitis ORPHA:901
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Palmar hyperkeratosis, Widely spaced teeth, Conical tooth OMIM:613573
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Sjögren-Larsson Syndrome
Hyperkeratosis, Erythema, Dry skin, Abnormal dental enamel morphology ORPHA:816
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture OMIM:203550
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Flexion contract... OMIM:226600
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... OMIM:253250
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin, Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth ORPHA:248
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Acute Generalized Exanthematous Pustulosis
Acantholysis, Cheilitis, Scaling skin, Skin vesicle, Purpura ORPHA:293173
Hennekam-Beemer Syndrome
Macule, Camptodactyly of finger, Micrognathia, Subcutaneous nodule, Thick lower lip vermilion, Er... ORPHA:2135
48,Xyyy Syndrome
Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia ORPHA:99329
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Esophageal varix, Dry skin, Hyperkeratosis, Inflammation of the large intestin... OMIM:614576
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:612463
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Rapp-Hodgkin Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... OMIM:129400
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Porphyria Variegata
Scarring, Localized skin lesion, Ileus, Hepatocellular carcinoma, Skin vesicle, Skin erosion, Milia ORPHA:79473
Pachyonychia Congenita
Natal tooth, Epidermoid cyst, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexu... ORPHA:2309
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Oligodontia, Hypodontia, Orthokeratosis, Enamel hypoplasia, Dry skin OMIM:607626
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... OMIM:613823
Braddock-Carey Syndrome 1
Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Everted lower lip vermilion, Thick v... OMIM:619980
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Failure to thrive, Bilateral cleft lip and palate, High palate, Malar f... OMIM:618874
Cockayne Syndrome Type 2
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Hypermelanotic macule, Flexio... ORPHA:90322
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Scarring, Small for gestational age, Protruding tong... ORPHA:99843
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita, Flexion contracture, Congenital pyloric atresia OMIM:612138
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rect... OMIM:243150
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide... OMIM:619293
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Decreased body weight, Carious teeth, Overweight,... OMIM:619229
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Oral mucosal blisters, Congenital... OMIM:619817
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia OMIM:212780
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Scarring, Oral mucosal blisters, Erythema, Atrophic sc... ORPHA:79396
Sweet Syndrome
Skin nodule, Pyoderma gangrenosum, Inflammation of the large intestine, Panniculitis, Erythematou... ORPHA:3243
Bone Marrow Failure Syndrome 3
Micrognathia, Oral ulcer, Downturned corners of mouth, Hyperkeratosis, Hypomelanotic macule, Hypo... OMIM:617052
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Snijders Blok-Campeau Syndrome
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia OMIM:618205
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta OMIM:245660
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Preauricular pit, Accessory oral frenulum, Hyperpigmented papule, Flexion contracture, Hypoplasia... ORPHA:88630
Andersen Cardiodysrhythmic Periodic Paralysis
Preauricular pit, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia,... OMIM:170390
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ... ORPHA:2980
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Dry skin, Marked delay in eruption of permanent teeth, Yellow... OMIM:104570
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Congenital Disorder Of Glycosylation, Type Iik
Malar flattening, Failure to thrive, Amelogenesis imperfecta OMIM:614727
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... OMIM:618727
Scarf Syndrome
Inguinal hernia, Hepatocellular adenoma, Cutis laxa, Long philtrum, Umbilical hernia, Enamel hypo... ORPHA:3134
Oculoskeletodental Syndrome
Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia ORPHA:557003
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Palmoplantar keratoderma, Hypodontia, Shagreen patch ORPHA:1816
Costello Syndrome
Failure to thrive in infancy, Abnormal dental enamel morphology, Redundant skin, Abnormality of t... ORPHA:3071
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Erythema, Cheilitis, Skin ulcer, Hyperkeratosis, Abnormal lip ... ORPHA:1334
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Premature loss of primary teet... ORPHA:2908
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr... OMIM:601701
Xfe Progeroid Syndrome
Failure to thrive, Cachexia, Absence of subcutaneous fat, Corneal scarring, Dermal atrophy, Prema... OMIM:610965
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi... ORPHA:10
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oral-pharyngeal dysphagia, Pierre-Robin sequence, Cleft palate, Oligodontia, Thi... OMIM:619184
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Aplasia cutis congenita, Acantholysis, Neonatal death, Skin erosion OMIM:609638
Cockayne Syndrome Type 1
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... ORPHA:90321
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... ORPHA:1133
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... ORPHA:1515
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... OMIM:613849
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick verm... OMIM:620250
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:612462
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Xerostomia, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr... OMIM:210600
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Carious teeth OMIM:277440
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Junctional Epidermolysis Bullosa With Pyloric Atresia
Oral mucosal blisters, Congenital pyloric atresia, Aplasia cutis congenita, Enamel hypoplasia, In... ORPHA:79403
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Micrognathia, Open bite, Carious teeth, Congenital pyloric atresia, Dry skin, Abnorm... ORPHA:2617
Heimler Syndrome 2
Dental crowding, Amelogenesis imperfecta OMIM:616617
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:103580
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology ORPHA:59303
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Wide mouth, Enamel hypoplasia, Failure to thrive, Bifid uvula OMIM:615802
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Celiac Disease, Susceptibility To, 1
Celiac disease, Weight loss, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, Enamel hypop... OMIM:212750
Hamamy Syndrome
Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa... OMIM:611174
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... OMIM:259775
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Chronic Graft Versus Host Disease
Fasciitis, Esophageal stricture, Flexion contracture, Xerostomia, Intermittent generalized erythe... ORPHA:99921
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn... ORPHA:3253
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Obesity, High palate, Malar flattening ORPHA:2180
Darier-White Disease
Acrokeratosis, Hypermelanotic macule, Acantholysis, Palmar pits, Plantar pits, Enlargement of par... OMIM:124200
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth ORPHA:3010
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive OMIM:264700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Dorsocervical fat pad, Small for gestational age, Micrognathia, Hypopla... ORPHA:391408
Short Syndrome
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:3163
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:211900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Foot joint contracture, Esophageal ulceration, Anal fissure, Oral mucosal... ORPHA:79408
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Erythema, Gingivitis, Palmoplantar keratoderma ORPHA:3194
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion... OMIM:151050
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... ORPHA:2457
Specific Granule Deficiency 2
Amelogenesis imperfecta, Tooth malposition, Failure to thrive, Conical tooth OMIM:617475
Brittle Cornea Syndrome 1
Atypical scarring of skin, Molluscoid pseudotumors, Dentinogenesis imperfecta, Palmoplantar cutis... OMIM:229200
Kilquist Syndrome
Mandibular prognathia, Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teet... OMIM:619080
Orofaciodigital Syndrome I
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... OMIM:311200
Pachyonychia Congenita 2
Natal tooth, Subungual hyperkeratosis, Epidermoid cyst, Angular cheilitis, Palmoplantar hyperkera... OMIM:167210
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... OMIM:608612
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Abnormal stomach morphology ORPHA:281090
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Cleft palate, Short philtrum, ... OMIM:617337
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Small for gest... ORPHA:2909
Odontochondrodysplasia
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta ORPHA:166272
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Ohdo Syndrome
Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo... OMIM:249620
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Aplasia/Hypoplasia of the skin, Abnormal de... ORPHA:1782
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Scarf Syndrome
Inguinal hernia, Cutis laxa, Long philtrum, Umbilical hernia, Enamel hypoplasia OMIM:312830
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Malabsorption, Atrophic gastritis OMIM:240300
Usher Syndrome Type 2
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:231178
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive ORPHA:289157
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... ORPHA:96263
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... OMIM:164200
Immunodeficiency 9
Stomatitis, Failure to thrive, Recurrent aphthous stomatitis, Amelogenesis imperfecta OMIM:612782
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Cafe-au-lait spot, Microdontia, Enamel hypoplasia, Retrognathia OMIM:210720
Chikungunya
Macule, Erythema, Enthesitis, Gingival bleeding, Skin vesicle, Petechiae ORPHA:324625
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Subcutaneous nodule, Gastroesophageal reflux, Hernia, Macule, Ap... ORPHA:2092
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Failure to thrive, D... OMIM:216400
Cleidocranial Dysplasia 1
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... OMIM:119600
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Pyloric ste... ORPHA:96169
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hypoplasia of teeth OMIM:613312
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Branchial fistula, Abnormal d... ORPHA:861
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... OMIM:619777
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... ORPHA:1071
Familial Adenomatous Polyposis
Duodenal polyposis, Epidermoid cyst, Multiple gastric polyps, Eruption failure, Adenocarcinoma of... ORPHA:733
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Malabsorption, Melanocytic nevus,... ORPHA:79430
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Dry skin, Hypoplasia of the zyg... ORPHA:1812
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Plantar hyperkeratosis, Small for gestational age, Abnormal dental ena... ORPHA:221016
Trichothiodystrophy
Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar... ORPHA:33364
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... ORPHA:439822
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Temtamy Syndrome
Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia OMIM:218340
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Orthok... ORPHA:73223
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Plantar hyperkeratosis, Small for gestational age, Abnormal dental ena... ORPHA:221008
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... ORPHA:1798
Knobloch Syndrome 2
Pyloric stenosis, Enamel hypoplasia, Micrognathia OMIM:618458
Eec Syndrome
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Carious teeth, Xerostomia, Cle... ORPHA:1896
Codas Syndrome
Delayed eruption of teeth, Omphalocele, Gastroesophageal reflux, Rectovaginal fistula, Enamel hyp... OMIM:600373
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hyperkeratosis, Abnormal dental enamel morphology ORPHA:1005
Codas Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1458
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... ORPHA:96264
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Enamel hypoplasia, Osteoma cutis, Obesity ORPHA:79444
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... OMIM:180849
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... OMIM:614701
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... ORPHA:464
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala... ORPHA:2916
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... ORPHA:2614
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Micrognathia, Supern... OMIM:268400
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Failure to thrive, Abnormal oral mucosa morphology, Skin erosion, Esophag... ORPHA:79404
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin... OMIM:248370
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Decreased body weight, Umbilical hernia, Dentinogenesis imperfecta, Long p... OMIM:614856
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... OMIM:607812
Odontochondrodysplasia 1
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum OMIM:184260
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Knee fl... OMIM:619503
Familial Adenomatous Polyposis 1
Duodenal polyposis, Epidermoid cyst, Carious teeth, Supernumerary tooth, Adenomatous colonic poly... OMIM:175100
Oculodentodigital Dysplasia
Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri... ORPHA:2710
Sanjad-Sakati Syndrome
Intestinal obstruction, Abnormal dental enamel morphology, Abnormality of the dentition, Microgna... ORPHA:2323
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet... ORPHA:191
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth ORPHA:2728
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Enamel hypoplasia ORPHA:94089
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... ORPHA:582
Spondylocarpotarsal Synostosis Syndrome
Inguinal hernia, Failure of eruption of permanent teeth, Cleft palate, Preauricular skin tag, Ena... OMIM:272460
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Anal atresia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft ... ORPHA:85199
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Enamel hypoplasia, Osteoma cutis, Obesity ORPHA:79443
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Cranioectodermal Dysplasia 3
Micrognathia, Hypoplasia of teeth, Cutis laxa, Everted lower lip vermilion, Widely spaced teeth, ... OMIM:614099
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening ORPHA:3258
Orofaciodigital Syndrome Type 1
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ... ORPHA:2750
Cranioectodermal Dysplasia 1
Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili... OMIM:218330
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Focal Dermal Hypoplasia
Omphalocele, Delayed eruption of teeth, Inguinal hernia, Intestinal malrotation, Congenital diaph... OMIM:305600
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... OMIM:300896
Cole-Carpenter Syndrome 2
Microretrognathia, High palate, Dentinogenesis imperfecta OMIM:616294
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Gardner Syndrome
Duodenal polyposis, Epidermoid cyst, Hepatoblastoma, Ampulla of Vater carcinoma, Abnormality of t... ORPHA:79665
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, G... ORPHA:534
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathi... OMIM:619269
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Cole-Carpenter Syndrome 1
Microdontia, Dentinogenesis imperfecta, Micrognathia OMIM:112240
Seckel Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Cachexia, Micrognathia ORPHA:808
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia OMIM:259420
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... ORPHA:2363
Cockayne Syndrome B
Mandibular prognathia, Reduced subcutaneous adipose tissue, Failure to thrive, Small for gestatio... OMIM:133540
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Usher Syndrome
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:886
3M Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... ORPHA:2616
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:3220
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo... ORPHA:3353
Branchioskeletogenital Syndrome
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... ORPHA:1299
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Hypoplasia of teeth OMIM:234050
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ... ORPHA:293967
Osteogenesis Imperfecta, Type X
Inguinal hernia, Micrognathia, Pyloric stenosis, Malar flattening, Dentinogenesis imperfecta OMIM:613848
Tuberous Sclerosis 1
Dental enamel pits, Subcutaneous nodule, Gingival fibromatosis, Hypomelanotic macule, Cafe-au-lai... OMIM:191100
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Subcutaneous nodule, Corneal scarring, Keloids, Ename... OMIM:309000
Cockayne Syndrome Type 3
Carious teeth, Enamel hypoplasia, Flexion contracture, Gastroesophageal reflux ORPHA:90324
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Turnpenny-Fry Syndrome
Mandibular prognathia, Thin upper lip vermilion, Numerous nevi, Failure to thrive, Dental crowdin... OMIM:618371
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity ORPHA:251004
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ... OMIM:253000
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Femoral hernia, Abnormal ... ORPHA:2658
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Thin skin OMIM:166200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Thin skin,... ORPHA:536467
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Scarring alopecia of scalp, Ski... ORPHA:158684
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Failure to thrive, Abnormal dental enamel morpholo... ORPHA:2556
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ... OMIM:253010
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Hyperkeratosis, Decreased body w... OMIM:266270
22Q11.2 Deletion Syndrome
Micrognathia, Anorectal anomaly, Short philtrum, Gastroesophageal reflux, Abnormal dental enamel ... ORPHA:567
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Stickler Syndrome
Slender build, Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxil... ORPHA:828
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Smith-Lemli-Opitz Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M... ORPHA:818
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl... OMIM:603457
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Intestinal obstruction, ... ORPHA:666
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, A... OMIM:601803
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Camptodactyly of finger, Abnormal dental ena... ORPHA:2273
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Microgastria-Limb Reduction Defect Syndrome
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra... ORPHA:2538
Williams Syndrome
Redundant skin, Micrognathia, Rectal prolapse, Gastroesophageal reflux, Microdontia, Abnormal den... ORPHA:904
Proteus Syndrome
Epidermal nevus, Abnormal dental enamel morphology, Cachexia, Carious teeth, Abnormal subcutaneou... ORPHA:744
Tetrasomy 9P
Sacral dimple, Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morpho... ORPHA:3310
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta OMIM:616507
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Dentinogenesis imperfecta OMIM:610915
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
X-Linked Hypophosphatemia
Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology ORPHA:89936
Proximal Renal Tubular Acidosis
Failure to thrive, Enamel hypomineralization, Malabsorption ORPHA:47159
Johanson-Blizzard Syndrome
Colonic diverticula, Failure to thrive, Small for gestational age, Malabsorption, Agenesis of per... OMIM:243800
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... OMIM:182250
Hardikar Syndrome
Preauricular pit, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophag... OMIM:301068
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Long philtrum OMIM:610682
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad... OMIM:619472
Epidermolysis Bullosa, Junctional 2A, Intermediate
Oral mucosal blisters OMIM:619783
Epidermolysis Bullosa, Junctional 2B, Severe
Oral mucosal blisters OMIM:619784

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 Lama3

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 Lama3.

No publications found that use IMPC mice or data for Lama3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Lama3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lama3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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