Gene Summary

Name:
laminin, beta 3
Synonyms:
nicein, 125kDa

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tooth morphology Lamb3tm1b(KOMP)Wtsi HOM Early adult 4.93×10-22
abnormal skin morphology Lamb3tm1b(KOMP)Wtsi HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Eye  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 50% (1 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Adult LacZ

LacZ Images Wholemount

6 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Lamb3 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 Lamb3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Lamb3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Pemphigoid Gestationis
Skin vesicle, Failure to thrive ORPHA:63275
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized skin lesion, Milia, Erythematous papule, Atrophic scars, Atypical scarring of skin, Car... ORPHA:79410
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Erythematous papule, Increased body weight, Palmoplantar erythema, Skin vesicle,... ORPHA:64745
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Darier Disease
Hypermelanotic macule, Macule, Acrokeratosis, Skin vesicle, Plantar pits, Anal mucosal leukoplakia ORPHA:218
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Dowling-Degos Disease
Hypermelanotic macule, Palmar pits, Erythematous papule, Hypopigmented macule, Digital pitting sc... ORPHA:79145
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Pemphigus Foliaceus
Scaling skin, Oral ulcer, Abnormal oral mucosa morphology, Serpiginous cutaneous lesion, Skin ves... ORPHA:79481
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Dermatitis Herpetiformis
Delayed eruption of teeth, Macule, Dental enamel pits, Skin vesicle, Erosion of oral mucosa, Eryt... ORPHA:1656
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Wells Syndrome
Skin vesicle ORPHA:901
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Papule, Skin vesicle, Dermal a... ORPHA:257
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans ORPHA:158681
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Papule, Inflammation of the large intestine, Skin vesicle ORPHA:48104
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Iga Pemphigus
Ulcerative colitis, Skin vesicle, Annular cutaneous lesion, Skin erosion, Skin plaque, Oral mucos... ORPHA:555905
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Taurodontism
Taurodontia OMIM:272700
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormality of the dentition, Angular cheilitis OMIM:613102
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin ulcer, Delayed eruption of teeth, Abnormality of the dentition, Papule, Gingivitis, Cleft pa... ORPHA:2314
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death OMIM:301021
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Hennekam-Beemer Syndrome
Papule, Macule, Failure to thrive, Subcutaneous nodule, Skin vesicle, Erythema ORPHA:2135
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Porphyria Variegata
Skin vesicle, Localized skin lesion, Skin erosion, Milia ORPHA:79473
Steatocystoma Multiplex
Natal tooth OMIM:184500
Dyskeratosis Congenita
Hypopigmented skin patches, Hypermelanotic macule, Skin ulcer, Periodontitis, Aplasia/Hypoplasia ... ORPHA:1775
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Hypodontia, Oral mucosal blisters OMIM:226650
Acute Generalized Exanthematous Pustulosis
Scaling skin, Skin vesicle, Purpura, Cheilitis ORPHA:293173
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Sweet Syndrome
Erythematous papule, Skin nodule, Skin vesicle, Erythematous plaque, Pyoderma gangrenosum ORPHA:3243
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Severe periodontitis, Premature loss of teeth, Long upper lip, Gingival overgrowth... ORPHA:99843
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Aplasia cutis congenita of scalp, Neonatal death, Aplasia cutis conge... OMIM:619817
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles ORPHA:137599
Auriculocondylar Syndrome 4
Narrow mouth, Cleft palate, Glossoptosis OMIM:620457
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Narrow mouth... OMIM:614669
Burning Mouth Syndrome
Smooth tongue, Tongue pain, Abnormality of taste sensation, Parageusia, Strawberry tongue, Abnorm... ORPHA:353253
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Papule, Abnormality of the gingiva, Abnormal oral mucosa ... ORPHA:530
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79405
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Microglossia ORPHA:141152
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Catel-Manzke Syndrome
Cleft palate, Glossoptosis, Oral synechia ORPHA:1388
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone ORPHA:3145
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na... OMIM:602483
Plummer-Vinson Syndrome
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Pallor, Tongue ... ORPHA:54028
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Downturned corners of mouth, Smooth philtrum, Protruding tongue OMIM:618732
Hartnup Disorder
Glossitis OMIM:234500
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Auriculocondylar Syndrome
Periauricular skin pits, Difficulty in tongue movements, Mandibular condyle hypoplasia, Dental cr... ORPHA:137888
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Chikungunya
Petechiae, Gingival bleeding, Macule, Skin vesicle, Erythema ORPHA:324625
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Cleft palate, Glossoptosis ORPHA:166100
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Microglossia, Long philtrum OMIM:277720
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Chronic Graft Versus Host Disease
Skin ulcer, Intermittent generalized erythematous papular rash, Weight loss, Skin vesicle, Erythema ORPHA:99921
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Narrow mouth, Microglossia OMIM:227270
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Preauricular skin tag, Preauricular p... OMIM:616367
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip vermilion ORPHA:1387
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro... OMIM:620107
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Preauricular skin tag, Cleft palate, Wide mouth, Hypoplasia of t... OMIM:154500
Epidermolysis Bullosa, Junctional 1B, Severe
Milia, Atrophic scars, Congenital localized absence of skin, Death in infancy, Pyloric stenosis, ... OMIM:226700
Bazex-Dupre-Christol Syndrome
Nevus, Furrowed tongue, Milia OMIM:301845
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum OMIM:613443
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,... ORPHA:3241
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Glossoptosis, Pierre-Robin sequence, Open mouth, Thin upper lip vermilion OMIM:613604
Hypoglossia With Situs Inversus
Narrow mouth, Hypodontia, High palate, Microglossia OMIM:612776
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:620269
Mulibrey Nanism
Nevus flammeus, Dental crowding, Enamel hypoplasia, Microglossia, Hypodontia, Dental malocclusion OMIM:253250
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,... OMIM:265800
Clark-Baraitser syndrome
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... OMIM:300602
Orofaciodigital Syndrome Iii
Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue OMIM:258850
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ankyloglossia, Cleft palate, Bifid uvula, Lobulated tongue, H... OMIM:174300
Acrodermatitis Enteropathica
Cheilitis, Skin ulcer, Glossitis, Dry skin, Furrowed tongue, Erythema, Abnormality of the tongue ORPHA:37
Orofaciodigital Syndrome Iv
Tongue nodules, High palate, Cleft palate, Lobulated tongue, Accessory oral frenulum, Hamartoma o... OMIM:258860
Omphalocele Syndrome, Shprintzen-Goldberg Type
Downturned corners of mouth, Hypoplasia of the pharynx, Thin upper lip vermilion, Anal atresia ORPHA:3164
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Pallister-Hall-Like Syndrome
Cleft palate, Median cleft upper lip, Microglossia, Death in infancy OMIM:241800
Seckel Syndrome 2
Few cafe-au-lait spots, Microdontia, Microglossia OMIM:606744
Intermediate Generalized Junctional Epidermolysis Bullosa
Milia, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Aplasia cutis congenita, Or... ORPHA:79402
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue, Erythema OMIM:614204
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, High, narrow palate, Submucous cleft hard palate, Glossoptosis ORPHA:3201
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Wide mouth, Few cafe-au-lait spots, Thick vermil... OMIM:618106
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Skin ulcer, Xerostomia, Open bite, Gingival bleeding, Abnormality of ... ORPHA:2907
Cronkhite-Canada Syndrome
Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp... ORPHA:2930
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Joubert Syndrome 18
Cleft palate, Lobulated tongue OMIM:614815
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Long phi... OMIM:200990
Hartnup Disease
Hypopigmented skin patches, Glossitis, Gingivitis ORPHA:2116
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Death in childhood, Protruding tongue, Bifid uvula, Cleft palate, Alveolar... OMIM:612938
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia ORPHA:2221
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cleft palate, Glossoptosis OMIM:618356
Mandibuloacral Dysplasia
Abnormal tongue morphology, Dental crowding, High palate, Hypoplasia of teeth, Thin skin ORPHA:2457
Trisomy 8Q
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Ab... ORPHA:1752
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Ankyloglossia, Cafe-au-lait spot, Enamel hypoplasia, Bilater... OMIM:618874
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Odontoonychodermal Dysplasia
Smooth tongue, Conical incisor, Abnormality of primary teeth, Dry skin, Palmoplantar erythema, Hy... OMIM:257980
Shprintzen Omphalocele Syndrome
Thin vermilion border, Hypoplasia of the pharynx, Anal atresia OMIM:182210
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, High palate, Furrowed tongue, Everted lower lip vermilion, Cleft palate, Tented u... OMIM:616449
Orofaciodigital Syndrome I
Supernumerary tooth, Milia, High palate, Ankyloglossia, Agenesis of permanent teeth, Carious teet... OMIM:311200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anal fissure, Milia, Esophageal stenosis, Narrow mouth, Abnormal esophagus morphology, Ankyloglos... ORPHA:89842
Moebius Syndrome
High palate, Everted lower lip vermilion, Multiple cafe-au-lait spots, Tooth agenesis, Microdonti... ORPHA:570
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Skin ulcer, Glossoptosis ORPHA:47
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula ORPHA:1839
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue ORPHA:2759
Tetraamelia Syndrome 2
Cleft palate, Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, Exaggerated median tongue furrow ORPHA:313892
Agnathia-Otocephaly Complex
Aglossia, Cleft palate, Narrow mouth, Microglossia OMIM:202650
Autosomal Recessive Robinow Syndrome
Abnormal palate morphology, Orofacial cleft, Sacral dimple, Supernumerary tooth, Nevus flammeus, ... ORPHA:1507
Hereditary Folate Malabsorption
Glossitis, Pallor, Cheilitis ORPHA:90045
Carey-Fineman-Ziter Syndrome
Thin vermilion border, Glossoptosis, High palate, Cleft palate, Pierre-Robin sequence, Long philt... ORPHA:1358
Cowden Syndrome 5
Skin tags, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Colonic diverticula OMIM:615108
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Hypoglossia-Hypodactyly Syndrome
High palate, Narrow mouth, Anal atresia, Death in infancy, Cleft palate, Hypodontia, Aplasia/Hypo... ORPHA:989
Arthrogryposis, Distal, Type 5D
Narrow mouth, Furrowed tongue, Cleft palate, Open mouth, Tongue atrophy OMIM:615065
Orofaciodigital Syndrome Ii
High palate, Agenesis of central incisor, Cleft palate, Lobulated tongue, Accessory oral frenulum... OMIM:252100
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Death in infancy, Bifid uvula, Cleft palate, Aplasia/Hypoplasia of the tongue ORPHA:1790
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve... ORPHA:364577
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Furrowed tongue ORPHA:2483
Hypoglossia-Hypodactylia
Aglossia, Narrow mouth, Microglossia OMIM:103300
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Dry skin, Protruding tongue OMIM:618797
Developmental And Epileptic Encephalopathy 80
High palate, Death in infancy, Protruding tongue, Wide mouth, Tented upper lip vermilion, Smooth ... OMIM:618580
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Hamartoma of to... ORPHA:2752
Tarp Syndrome
Meckel diverticulum, Glossoptosis, High palate, Neonatal death, Cleft palate, Tongue nodules OMIM:311900
Orofaciodigital Syndrome Type 1
Milia, Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High palate, Dry skin... ORPHA:2750
Chand Syndrome
Agenesis of maxillary incisor, Dry skin, Commissural lip pit, Abnormal oral frenulum morphology, ... ORPHA:1401
Cowden Syndrome 6
Skin tags, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Colonic diverticula OMIM:615109
Marshall-Smith Syndrome
Thin skin, Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft palate, Bifid tongue ORPHA:2001
Congenital Disorder Of Glycosylation, Type Iig
High palate, Glossoptosis, Narrow mouth, Cleft palate, Pierre-Robin sequence, Smooth philtrum, Lo... OMIM:611209
Neurodevelopmental Disorder With Variable Motor And Language Impairment
High palate, Everted lower lip vermilion, Protruding tongue, Cafe-au-lait spot, Thin skin, Open m... OMIM:617804
Lelis Syndrome
Hypodontia, Carious teeth, Furrowed tongue ORPHA:140936
Cowden Syndrome 1
Skin tags, High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Acrokeratosis, Co... OMIM:158350
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip vermilion, High palate, E... OMIM:608670
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Cohen Syndrome
High, narrow palate, Short philtrum, Gingival overgrowth, Abnormality of the dentition, Tooth age... ORPHA:193
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Microdontia, Cleft palate, Microglossia ORPHA:1307
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microglossia ORPHA:1972
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Anal atresia, Incomplete cleft of the upper lip, Cleft palate, Lobulated tongue, Nata... OMIM:616300
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Glossoptosis ORPHA:440354
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue ORPHA:2167
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Nevus flammeus, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Thick v... OMIM:616078
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Milia, Smooth tongue, Atrophic scars, Enamel hypoplasia, Aplasia cutis congenita on trunk or limb... ORPHA:79396
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Triangular mouth, Dental malocclusion, Gingival overgrowth, Downturned corners of ... OMIM:616894
Agel Amyloidosis
Diffuse skin atrophy, Dry skin, Cutis laxa, Xerostomia, Tongue atrophy ORPHA:85448
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... ORPHA:2751
Frontorhiny
Bifid tongue, Cleft palate, Dermoid cyst, Preauricular skin tag ORPHA:391474
Raine Syndrome
Gingival overgrowth, High palate, Narrow mouth, Microdontia, Death in infancy, Protruding tongue,... OMIM:259775
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Delayed eruption of teeth, Abnormal dental enamel morph... ORPHA:1452
Rabson-Mendenhall Syndrome
Advanced eruption of teeth, Dental crowding, Gingival overgrowth, High palate, Abnormality of the... ORPHA:769
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Gingival overgrowth, Everted lower lip vermilion, Protruding tongue, Wide ... OMIM:212066
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy OMIM:614153
Robinow Syndrome, Autosomal Recessive 1
Narrow palate, Orofacial cleft, Sacral dimple, Nevus flammeus, Short philtrum, Triangular mouth, ... OMIM:268310
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy ORPHA:276198
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dent... ORPHA:158668
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Short philtrum, Exaggerated cupid's bow, Everted lower lip vermilion, Furrow... ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Furrowed tongue, Smooth philtrum, Diastema, Thin upper lip vermilion OMIM:300534
Treacher-Collins Syndrome
Rectovaginal fistula, Abnormal dental enamel morphology, Open bite, Glossoptosis, Abnormality of ... ORPHA:861
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, High palate, Furrowed tongue, Preauricular pit, Downturned corners of mouth, Cleft p... ORPHA:453499
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Death in childhood, Tongue atrophy OMIM:211530
Ramos-Arroyo Syndrome
Aganglionic megacolon, Smooth tongue, Narrow mouth, Carious teeth, Long philtrum, Shoulder dimple... ORPHA:1051
Kinsship Syndrome
Sacral dimple, Thick lower lip vermilion, Widely spaced teeth, Short philtrum, Gingival overgrowt... OMIM:619297
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98795
Kleefstra Syndrome 1
Everted lower lip vermilion, Protruding tongue, Persistence of primary teeth, Natal tooth, Macrog... OMIM:610253
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Abnormal oral frenulum morphology, Midline notch of upper alveolar r... ORPHA:2754
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis OMIM:175500
Imerslund-Gräsbeck Syndrome
Glossitis, Pallor, Angular cheilitis ORPHA:35858
Orofaciodigital Syndrome Vi
High palate, Incomplete cleft of the upper lip, Cleft upper lip, Cleft palate, Lobulated tongue, ... OMIM:277170
Congenital Disorder Of Glycosylation, Type Iie
Excessive wrinkled skin, Narrow mouth, Protruding tongue, Death in infancy, Thick vermilion borde... OMIM:608779
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Intestinal pseudo-obstruction, Abnormality of primary teeth, Open bite, Exag... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Intestinal pseudo-obstruction, Abnormality of primary teeth, Open bite, Exag... ORPHA:352665
Stuve-Wiedemann Syndrome 1
Thin vermilion border, Premature skin wrinkling, Milia, Smooth tongue, Death in infancy, Thin ski... OMIM:601559
Cowden Syndrome
Hypopigmented skin patches, Colorectal polyposis, High palate, Multiple cafe-au-lait spots, Papul... ORPHA:201
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Orofacial cleft, Sacral dimple, Nevus flammeus, Triangular mouth, Delayed eruption... OMIM:180700
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Penetrating foot ulcers, Tongue atrophy ORPHA:99956
Angelman Syndrome
Macroglossia, Widely spaced teeth, Wide mouth, Protruding tongue OMIM:105830
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Sacral dimple, Excessive wrinkled skin, Widely spaced teeth, Cleft soft pala... OMIM:619950
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Glossoptosis, Abnormality of the dentition, Narrow mout... ORPHA:2108
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:411511
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis, Erythematous plaque ORPHA:247353
Acro-Renal-Mandibular Syndrome
Orofacial cleft, Short philtrum, High palate, Tracheoesophageal fistula, Aplasia/Hypoplasia of th... ORPHA:958
Autosomal Dominant Robinow Syndrome
Supernumerary tooth, High, narrow palate, Sacral dimple, Short philtrum, Naevus flammeus of the e... ORPHA:3107
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Stomatitis, Glossitis, High palate, Tracheoesophageal fistula, Thin upper lip vermilion OMIM:277380
Down Syndrome
Narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Narrow mouth, Abnormality of the... ORPHA:870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue OMIM:242860
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis ORPHA:436003
Pachyonychia Congenita 3
Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia OMIM:615726
Gracile Bone Dysplasia
Ankyloglossia, Death in infancy OMIM:602361
Short-Rib Thoracic Dysplasia 12
Median cleft palate, Intestinal malrotation, Neonatal death, Lobulated tongue, Natal tooth, Hamar... OMIM:269860
Congenital Sialidosis Type 2
Petechiae, Gingival overgrowth, Protruding tongue ORPHA:93400
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Au-Kline Syndrome
Sacral dimple, Oligodontia, High palate, Downturned corners of mouth, Bifid uvula, Cleft palate, ... OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbite, Short phil... OMIM:620450
Marshall-Smith Syndrome
Short mandibular rami, Death in childhood, Short philtrum, Gingival overgrowth, Glossoptosis, Hig... OMIM:602535
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Redundant neck skin, Death in childhood, High palate, Protruding tongue, Mac... OMIM:214100
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Protruding tongue OMIM:619179
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Ring Chromosome 22 Syndrome
Thick vermilion border, Protruding tongue ORPHA:1446
Carey-Fineman-Ziter Syndrome 1
High palate, Glossoptosis, Pierre-Robin sequence, Cleft palate, Microglossia OMIM:254940
Robinow Syndrome
Orofacial cleft, Triangular mouth, Tooth malposition, Hypodontia, Broad alveolar ridges, Dental c... ORPHA:97360
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Cleft palate, Glossitis ORPHA:79284
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Intestinal malrotation, Cleft upper lip, Cleft palate, Hamartoma of tongue, Bifid t... OMIM:613091
Icf Syndrome
Macroglossia, Protruding tongue ORPHA:2268
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue ORPHA:96147
Giant Cell Arteritis
Glossitis, Skin ulcer ORPHA:397
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Thick lower lip vermilion, Protruding tongue, Thick vermilion border, Macroglossia, Diastema, U-S... OMIM:301040
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Microglossia ORPHA:990
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Microdontia, Oral leukoplakia OMIM:148210
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98794
Amyotrophic Lateral Sclerosis
Xerostomia, Tongue atrophy ORPHA:803
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93399
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Short hard palate, Glossoptosis, High palate, Carious teeth, Cl... OMIM:117650
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, High palate, Short philtrum, Protruding tongue OMIM:300963
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Otopalatodigital Syndrome Type 2
Oligodontia, Glossoptosis, Narrow mouth, Pierre-Robin sequence, Cleft palate, Anodontia ORPHA:90652
Opitz Gbbb Syndrome
Hypodontia, Ectopic anus, High palate, Tracheoesophageal fistula, Anal atresia, Ankyloglossia, Pr... ORPHA:2745
Helsmoortel-Van Der Aa Syndrome
Thin vermilion border, Advanced eruption of teeth, Widely spaced teeth, Thick lower lip vermilion... OMIM:615873
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue OMIM:230600
Cerebrocostomandibular Syndrome
Short hard palate, Cleft palate, Glossoptosis, Death in infancy ORPHA:1393
Tarp Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence, Abnormal duodenum morphology, Tongue nodules, ... ORPHA:2886
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Cleft palate, Microglossia ORPHA:2839
Fontaine Progeroid Syndrome
High, narrow palate, Premature skin wrinkling, Redundant skin, Oligodontia, Narrow mouth, Everted... OMIM:612289
Smith-Lemli-Opitz Syndrome
Supernumerary tooth, Advanced eruption of teeth, Aganglionic megacolon, Abnormal dental enamel mo... ORPHA:818
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, High palate, Furrowed tongue, Multiple cafe-au-lait spots, Smooth philtrum... OMIM:616975
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Narrow mouth, Ankyloglossia, Pyloric stenosis, Cleft palate, Smooth philtrum... ORPHA:261330
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Cutis laxa, Thin skin, Enamel hypoplasia, Cleft palate, Microglossi... OMIM:151050
Pallister-Hall Syndrome
Anal atresia, Cleft upper lip, Neonatal death, Cleft palate, Natal tooth, Microglossia, Anteriorl... OMIM:146510
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Glossoptosis ORPHA:94068
Angelman Syndrome
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:72
Mucoepithelial Dysplasia, Hereditary
Furrowed tongue, Erythematous oral mucosa OMIM:158310
Achondrogenesis, Type Ia
Stillbirth, Protruding tongue OMIM:200600
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Abnormal tongue morphology, Thick vermilion border, P... ORPHA:653
Kawasaki Disease
Cheilitis, Glossitis, Scaling skin on fingertip, Palmoplantar erythema, Strawberry tongue, Lip fi... ORPHA:2331
Joubert Syndrome 1
Triangular-shaped open mouth, Macroglossia, Protruding tongue OMIM:213300
Distal Deletion 15Q
Short philtrum, Aplasia cutis congenita over the scalp vertex, Abnormality of the dentition, Clef... ORPHA:1596
Developmental And Epileptic Encephalopathy 100
Gingival overgrowth, High palate, Microdontia, Protruding tongue, Enamel hypoplasia, Tented upper... OMIM:619777
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Milia, Atrophic scars, Narrow mouth, Ankyloglossia, Carious teeth, Esophageal ulcer... ORPHA:79408
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Catel-Manzke Syndrome
High palate, Glossoptosis, Narrow mouth, Cleft upper lip, Pierre-Robin sequence, Bifid uvula, Cle... OMIM:616145
1Q21.1 Microdeletion Syndrome
Long philtrum, High palate, Ankyloglossia ORPHA:250989
Hutchinson-Gilford Progeria Syndrome
Thin vermilion border, Hypermelanotic macule, Premature skin wrinkling, Delayed eruption of teeth... ORPHA:740
Stickler Syndrome
Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos... ORPHA:828
Yunis-Varon Syndrome
Thin vermilion border, Redundant neck skin, High, narrow palate, Broad secondary alveolar ridge, ... ORPHA:3472
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Distal Deletion 12Q
Supernumerary tooth, High, narrow palate, Esophageal atresia, Pyloric stenosis, Smooth philtrum, ... ORPHA:96149
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Aplasia of the epiglottis, Cleft palate, Lobulated tongue, Accessory oral fr... ORPHA:434179
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Cleft palate, Microglossia, Hamartoma of tongue, Median cleft upper lip OMIM:263520
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Aplasia of the epiglottis, Cleft palate, Lobulated tongue, Natal tooth, Clef... OMIM:615948
Cousin Syndrome
Cleft palate, Alveolar ridge overgrowth, Microglossia OMIM:260660
Meckel Syndrome, Type 1
Anal atresia, Intestinal malrotation, Cleft upper lip, Cleft palate, Lobulated tongue, Wide mouth... OMIM:249000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Glossoptosis, Downturned corners of mouth, Long philtrum, Macroglossia, Thin upper l... ORPHA:444077
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short uvula, Short philtrum, High palate, Ankyloglossia, Thick vermilion bor... OMIM:619475
Glucagonoma
Intestinal obstruction, Steatorrhea, Stomatitis, Glossitis, Necrolytic migratory erythema ORPHA:97280
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Ankyloglossia, Preauricular pit, Carious teeth, Bifid uvula, Downturned corners of mouth, Natal t... OMIM:620186
Plague
Localized skin lesion, Skin ulcer, Glossitis, Dry skin, Inflammation of the large intestine, Ente... ORPHA:707
Smith-Lemli-Opitz Syndrome
Sacral dimple, Aganglionic megacolon, Broad alveolar ridges, Dental crowding, Death in infancy, I... OMIM:270400
Degcags Syndrome
Sacral dimple, Intestinal atresia, High palate, Protruding tongue, Pyloric stenosis, Wide mouth, ... OMIM:619488
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Cleft palate, Ankyloglossia ORPHA:488642
Okamoto Syndrome
Redundant neck skin, Anal stenosis, Open bite, Exaggerated median tongue furrow, Intestinal malro... ORPHA:2729
Down Syndrome
Redundant neck skin, Aganglionic megacolon, Anal atresia, Protruding tongue, Duodenal stenosis, M... OMIM:190685
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, High palate, Short upper lip, Hypoplastic philtrum, Protruding tongue,... OMIM:309580
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Carney Complex
Esophageal neoplasm, Nodular changes affecting the eyelids, Multiple lentigines, Neoplasm of the ... ORPHA:1359
Fraser Syndrome
Orofacial cleft, Anal stenosis, Dental crowding, Ectopic anus, High palate, Anal atresia, Death i... ORPHA:2052
Okur-Chung Neurodevelopmental Syndrome
High palate, Thin upper lip vermilion, Protruding tongue OMIM:617062
Microsporidiosis
Skin nodule, Glossitis ORPHA:2552
Blomstrand Lethal Chondrodysplasia
Long philtrum, Natal tooth, Protruding tongue ORPHA:50945
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue ORPHA:564
Viss Syndrome
High, narrow palate, Cleft soft palate, Chronic gastritis, High palate, Duodenitis, Cutis laxa, I... OMIM:619472
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Meckel diverticulum, Gingival overgrowth, Exaggerated median tongue furrow, Anal a... OMIM:312870
Stüve-Wiedemann Syndrome
Smooth tongue, Sacral dimple, Abnormality of the dentition ORPHA:3206
Neuroocular Syndrome
Sacral dimple, Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Downturned co... OMIM:619539
Chilton-Okur-Chung Neurodevelopmental Syndrome
Agenesis of incisor, Widely spaced teeth, Short philtrum, Ankyloglossia, Wide mouth, Smooth philt... OMIM:619841
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Ectopic anus, Anal atresia, Cleft upper lip, Long philtrum, Bifid tongue ORPHA:93271
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia OMIM:619525
Pallister-Hall Syndrome
Anal atresia, Cleft lip, Bifid uvula, Natal tooth, Cleft palate, Microglossia, Accessory oral fre... ORPHA:672
Microphthalmia, Syndromic 6
Bifid uvula, High palate, Cleft palate, Microglossia OMIM:607932
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormal oral mucosa morphology, Erosion of oral mucosa ORPHA:79404

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 Lamb3

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 Lamb3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Tissue substructure-specific deposition of the β3-containing laminin-332 in the biliary epithelium of human and mouse livers. Biochemical and biophysical research communications (January 2020) Lamb3tm1c(KOMP)Wtsi 32008745

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lamb3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Lamb3tm43924(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lamb3tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lamb3tm1c(KOMP)Wtsi Wild type floxed exon (post-Flp) Mice
Lamb3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lamb3tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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