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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Adult LacZ

LacZ Images Wholemount

6 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, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Pemphigoid Gestationis
Failure to thrive, Skin vesicle ORPHA:63275
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticarial plaque, Erythe... ORPHA:64745
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Darier Disease
Skin vesicle, Plantar pits, Anal mucosal leukoplakia, Acrokeratosis, Macule, Hypermelanotic macule ORPHA:218
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth OMIM:125420
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Localized skin lesion, Hyperkeratotic papule, Skin vesicle, Enamel hypoplasia, Keloids, At... ORPHA:79410
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... ORPHA:477781
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Dowling-Degos Disease
Palmar pits, Skin vesicle, Hyperpigmented papule, Hyperkeratotic papule, Digital pitting scar, Ep... ORPHA:79145
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Pemphigus Foliaceus
Skin vesicle, Oral ulcer, Annular cutaneous lesion, Scaling skin, Abnormal oral mucosa morphology... ORPHA:79481
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Dermatitis Herpetiformis
Malabsorption, Skin vesicle, Macule, Erythema ORPHA:1656
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Skin vesicle, Papule, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morp... ORPHA:257
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... ORPHA:2972
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Skin ulcer, Papule, Inflammation of the large intestine ORPHA:48104
Wells Syndrome
Skin vesicle ORPHA:901
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Oral mucosal blisters ORPHA:158681
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... ORPHA:49042
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Iga Pemphigus
Skin vesicle, Annular cutaneous lesion, Ulcerative colitis, Skin plaque, Oral mucosal blisters, S... ORPHA:555905
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:311895
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Taurodontism
Taurodontia OMIM:272700
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Autosomal Dominant Hyper-Ige Syndrome
Gingivitis, Skin vesicle, Delayed eruption of teeth, Skin ulcer, Papule, Cleft palate, Abnormalit... ORPHA:2314
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death OMIM:301021
Hypotrichosis And Recurrent Skin Vesicles
Angular cheilitis, Skin vesicle OMIM:613102
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth 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
Skin vesicle, Papule, Failure to thrive, Macule, Subcutaneous nodule, Erythema ORPHA:2135
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Porphyria Variegata
Milia, Skin vesicle, Localized skin lesion, Skin erosion ORPHA:79473
Dyskeratosis Congenita
Skin vesicle, Periodontitis, Malabsorption, Hypodontia, Skin ulcer, Taurodontia, Esophageal steno... ORPHA:1775
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... OMIM:273050
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Enamel hypoplasia, Carious teeth, Oral mucosal blisters OMIM:226650
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum, Skin nodule, Erythematous plaque, Erythematous papule ORPHA:3243
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle, Narrow palate, Deep philtrum, Severe periodontitis, Protruding tongue, Premature lo... ORPHA:99843
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Aplasia cutis congenita of scalp, Esophageal stenosis... OMIM:619817
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Microglossia, ... OMIM:614669
Lipoid Proteinosis
High palate, Tongue nodules, Thick lower lip vermilion, Papule, Abnormal oral mucosa morphology, ... ORPHA:530
Burning Mouth Syndrome
Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Xerostomia, Smooth to... ORPHA:353253
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Microglossia ORPHA:141152
Catel-Manzke Syndrome
Cleft palate, Oral synechia, Glossoptosis ORPHA:1388
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:1873
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Hypoplasia of the zygomatic bone, Micrognathia, Carious teeth, Supernumerary tooth ORPHA:3145
Hartnup Disorder
Glossitis OMIM:234500
Plummer-Vinson Syndrome
Esophageal web, Tongue atrophy, Glossitis, Pallor, Narrow mouth, Intra-oral hyperpigmentation, Ch... ORPHA:54028
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Downturned corners of mouth, Protruding tongue, Smooth philtrum OMIM:618732
Auriculocondylar Syndrome 1
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Mandibular con... OMIM:602483
Chikungunya
Skin vesicle, Petechiae, Macule, Gingival bleeding, Erythema ORPHA:324625
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Cleft palate, Long philtrum, Glossoptosis ORPHA:166100
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Bifid uvula, ... ORPHA:137888
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Whistling Face Syndrome, Recessive Form
High palate, Long philtrum, Narrow mouth, Microglossia, Whistling appearance OMIM:277720
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Narrow mouth OMIM:227270
Chronic Graft Versus Host Disease
Skin vesicle, Intermittent generalized erythematous papular rash, Weight loss, Skin ulcer, Erythema ORPHA:99921
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Short philtrum, Everted lower lip vermilion, Furrowed tongue, Tooth malposition ORPHA:1387
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Preauricular pit, Dental crowding, Everted lower lip vermilion... OMIM:616367
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Lobulated tongue, Downturned corners of mouth, Thin upper lip vermilion OMIM:613443
Epidermolysis Bullosa, Junctional 1B, Severe
Milia, Enamel hypoplasia, Death in infancy, Pyloric stenosis, Atrophic scars, Congenital localize... OMIM:226700
Bazex Syndrome
Furrowed tongue, Milia, Nevus OMIM:301845
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Deafness-Craniofacial Syndrome
Bifid tongue, Short lingual frenulum, Short philtrum, Abnormal palate morphology, Abnormality of ... ORPHA:3241
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Pierre-Robin sequence, High palate, Thin upper lip vermilion, Open mouth, Glossoptosis OMIM:613604
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Hypodontia, Nevus flammeus, Microglossia, Dental crowding OMIM:253250
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Seckel Syndrome 2
Few cafe-au-lait spots, Microglossia, Microdontia OMIM:606744
Orofaciodigital Syndrome Xix
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Microdontia, Hyp... OMIM:620107
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Hypoglossia With Situs Inversus
Hypodontia, Narrow mouth, High palate, Microglossia OMIM:612776
Pycnodysostosis
Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Absent frontal sinuse... OMIM:265800
Acrodermatitis Enteropathica
Malabsorption, Skin ulcer, Glossitis, Erythema, Furrowed tongue, Abnormality of the tongue, Dry s... ORPHA:37
Clark-Baraitser syndrome
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... OMIM:300602
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Orofaciodigital Syndrome Iii
Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth OMIM:258850
Orofaciodigital Syndrome V
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky... OMIM:174300
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Orofaciodigital Syndrome Iv
Lobulated tongue, High palate, Tongue nodules, Accessory oral frenulum, Cleft palate, Hamartoma o... OMIM:258860
Atkin-Flaitz Syndrome
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... OMIM:300431
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Milia, Atrophic scars, Scarring alopecia of scalp, Aplasia cutis congenita, Or... ORPHA:79402
Pallister-Hall-Like Syndrome
Median cleft lip, Cleft palate, Microglossia, Death in infancy OMIM:241800
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, Submucous cleft hard palate, Glossoptosis, High, narrow palate ORPHA:3201
Cronkhite-Canada Syndrome
Stomach cancer, Malabsorption, Intestinal polyposis, Colon cancer, Hypogeusia, Furrowed tongue, H... ORPHA:2930
Treacher Collins Syndrome 1
Hypoplasia of the pharynx, Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narr... OMIM:154500
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue, Erythema OMIM:614204
Hereditary Acrokeratotic Poikiloderma
Thin skin, Gingivitis, Abnormal pigmentation of the oral mucosa, Premature loss of primary teeth,... ORPHA:2907
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Submucous cleft hard palate, Dental crowding, Protruding tongue, Few caf... OMIM:618106
Hartnup Disease
Malabsorption, Gingivitis, Glossitis, Hypopigmented skin patches ORPHA:2116
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Acrocallosal Syndrome
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... OMIM:200990
Chand Syndrome
Bifid tongue, Agenesis of maxillary incisor, Commissural lip pit, Abnormal oral frenulum morpholo... ORPHA:1401
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia ORPHA:2221
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate, D... OMIM:612938
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
X-Linked Agammaglobulinemia
Malabsorption, Skin ulcer, Glossoptosis, Hypopigmented skin patches ORPHA:47
Trisomy 8Q
Non-midline cleft lip, Bifid tongue, High palate, Abnormal oral frenulum morphology, Everted lowe... ORPHA:1752
Mandibuloacral Dysplasia
Thin skin, High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of teeth ORPHA:2457
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cleft palate, Glossoptosis OMIM:618356
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Death in infancy, Microdontia, Everted lower lip v... ORPHA:570
Basel-Vanagaite-Smirin-Yosef Syndrome
High palate, Nevus flammeus of the forehead, Short philtrum, Everted lower lip vermilion, Tented ... OMIM:616449
Joubert Syndrome 18
Cleft palate, Lobulated tongue OMIM:614815
Odontoonychodermal Dysplasia
Palmoplantar erythema, Hypodontia, Widely spaced primary teeth, Agenesis of permanent teeth, Smoo... OMIM:257980
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue ORPHA:2759
Cowden Syndrome 5
Skin tags, Colonic diverticula, High palate, Narrow mouth, Furrowed tongue, Hamartomatous polyposis OMIM:615108
Down Syndrome
Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Macroglossia, Anal ... ORPHA:870
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, High palate, Long philtrum, Thin vermili... ORPHA:1358
Orofaciodigital Syndrome I
Milia, Lobulated tongue, Cleft upper lip, Bifid tongue, High palate, Enamel hypoplasia, Tongue no... OMIM:311200
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip OMIM:618021
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Narrow mouth, Furrowed tongue, Cleft palate, Open mouth OMIM:615065
Mohr Syndrome
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Median cleft lip, Accessory oral fre... OMIM:252100
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Autosomal Recessive Robinow Syndrome
Sacral dimple, Bifid tongue, Long philtrum, Ectopic anus, Death in infancy, Wide mouth, Hypodonti... ORPHA:1507
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cafe-au-lait spot, Pierre-Robin sequence, Oligodontia, Everted lower lip vermilion, Tented upper ... ORPHA:364577
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Milia, Esophageal stricture, Ankyloglossia, Esophageal stenosis, Aplasia cutis congenita, Anal fi... ORPHA:89842
Hereditary Folate Malabsorption
Glossitis, Cheilitis, Pallor ORPHA:90045
Cowden Syndrome 6
Skin tags, Colonic diverticula, High palate, Narrow mouth, Furrowed tongue, Hamartomatous polyposis OMIM:615109
Orofaciodigital Syndrome Type 1
Milia, Lobulated tongue, Lip pit, High palate, Tongue nodules, Broad alveolar ridges, Hypodontia,... ORPHA:2750
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Death in infancy, Bifid uvula, Narrow mouth, Cleft palate ORPHA:1790
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Wide mouth, Death in infancy, Protruding tongue, Smooth philtrum, Ten... OMIM:618580
Omphalocele Syndrome, Shprintzen-Goldberg Type
Hypoplasia of the pharynx, Downturned corners of mouth, Thin upper lip vermilion, Anal atresia ORPHA:3164
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Gingival overgrowth, Dry skin, Wide mouth OMIM:618797
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Exaggerated median tongue furrow ORPHA:313892
Agnathia-Otocephaly Complex
Cleft palate, Aglossia, Microglossia, Narrow mouth OMIM:202650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, High palate, Cafe-au-lait spot, Ankyloglossia, Thin upper lip vermilion, Bilat... OMIM:618874
Marshall-Smith Syndrome
Thin skin, Open mouth, Protruding tongue, Gingival overgrowth ORPHA:561
Cowden Syndrome 1
Skin tags, Colonic diverticula, High palate, Acrokeratosis, Narrow mouth, Furrowed tongue, Hamart... OMIM:158350
Orofaciodigital Syndrome Type 3
Irregular dentition, Lobulated tongue, Bifid uvula, Hamartoma of tongue, Abnormality of the denti... ORPHA:2752
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Microdontia, Narrow mouth, Microglossia, Cleft palate ORPHA:1307
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Long philtrum, Thin upper lip vermilion, Narrow mouth, Smooth... OMIM:611209
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate ORPHA:2001
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microglossia ORPHA:1972
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, High, narrow palate, Short philtrum, Tooth agenesis, Preauricul... ORPHA:193
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Diastema, Everted lower lip vermilion, Protruding tongue, Thin vermilion border, Open... OMIM:212066
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Thin skin, Cafe-au-lait spot, High palate, Everted lower lip vermilion, Protruding tongue, Smooth... OMIM:617804
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Death in infancy, Hypodontia, Ana... ORPHA:989
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Bifid tongue, Natal tooth, Anal atresia, Incomplete cleft of the upper lip, Sti... OMIM:616300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cafe-au-lait spot, High palate, Pierre-Robin sequence, Exaggerated median tongue furrow, Long phi... OMIM:608670
Lelis Syndrome
Furrowed tongue, Hypodontia, Carious teeth ORPHA:140936
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Holzgreve Syndrome
Cleft palate, Aplasia/Hypoplasia of the tongue, Bifid tongue ORPHA:2167
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Hypoglossia-Hypodactylia
Aglossia, Microglossia, Narrow mouth OMIM:103300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Milia, Enamel hypoplasia, Atrophic scars, Aplasia cutis congenita, Oral mucosal blisters, Smooth ... ORPHA:79396
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Glossoptosis ORPHA:440354
Frontorhiny
Cleft palate, Dermoid cyst, Bifid tongue, Preauricular skin tag ORPHA:391474
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Dental malocclusion, Bifid tongue, Long philtrum, Agenesis of permanent teeth, Ant... OMIM:616894
Tarp Syndrome
Cleft palate, High palate, Glossoptosis, Tongue nodules OMIM:311900
Raine Syndrome
Enamel hypoplasia, High palate, Wide mouth, Death in infancy, Natal tooth, Microdontia, Narrow mo... OMIM:259775
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy OMIM:614153
Agel Amyloidosis
Cutis laxa, Tongue atrophy, Xerostomia, Diffuse skin atrophy, Dry skin ORPHA:85448
Rabson-Mendenhall Syndrome
High palate, Advanced eruption of teeth, Lichenoid skin lesion, Macroglossia, Furrowed tongue, De... ORPHA:769
Cleidocranial Dysplasia
Delayed eruption of teeth, Supernumerary tooth, Open bite, Carious teeth, Cleft palate, Abnormali... ORPHA:1452
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Glossitis, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy OMIM:175500
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of dental morphology, Scaling skin, Anoperineal fistula, Abnormal tongue morphology, ... ORPHA:158668
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy ORPHA:276198
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, High palate, Long philtrum, Ankyloglossia, Nevus flammeus, Thin upper lip vermilio... OMIM:616078
Kinsship Syndrome
Sacral dimple, Wide mouth, Widely spaced teeth, Death in infancy, Thick lower lip vermilion, Anky... OMIM:619297
Treacher-Collins Syndrome
Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Abnormality of dental mor... ORPHA:861
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:98795
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Preauricular pit, Oligodontia, Bifid uvula, Macroglossia, Downturned corners of mout... ORPHA:453499
Ramos-Arroyo Syndrome
Long philtrum, Shoulder dimple, Aganglionic megacolon, Narrow mouth, Smooth tongue, Xerostomia, C... ORPHA:1051
Kleefstra Syndrome 1
Natal tooth, Macroglossia, Everted lower lip vermilion, Protruding tongue, Persistence of primary... OMIM:610253
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Diastema, Thin upper lip vermilion, Smooth philtrum, Furrowed tongue OMIM:300534
Basel-Vanagaite-Smirin-Yosef Syndrome
Nevus flammeus of the forehead, Short philtrum, Everted lower lip vermilion, Tented upper lip ver... ORPHA:464738
Orofaciodigital Syndrome Type 6
Lobulated tongue, High palate, Tongue nodules, Midline notch of upper alveolar ridge, Abnormal or... ORPHA:2754
Shprintzen Omphalocele Syndrome
Hypoplasia of the pharynx, Anal atresia, Thin vermilion border OMIM:182210
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Bifid uvula, Glossoptosis ORPHA:1427
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Thick vermilion border, Narrow mouth, Protruding tongue, Smooth philtrum, Exces... OMIM:608779
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Bifid tongue, Exaggerated median tongue furrow, Preauricular pit, Bifid uvul... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Bifid tongue, Exaggerated median tongue furrow, Preauricular pit, Bifid uvul... ORPHA:352665
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy OMIM:211530
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Macroglossia OMIM:242860
Cowden Syndrome
Colorectal polyposis, Melanocytic nevus, High palate, Macroglossia, Papule, Hypopigmented skin pa... ORPHA:201
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, High palate, Tongue nodules, Incomplete cleft of the upper lip... OMIM:277170
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Glossitis, Pallor ORPHA:35858
Robinow Syndrome, Autosomal Dominant 1
Sacral dimple, Bifid tongue, Narrow palate, High palate, Delayed eruption of teeth, Short lingual... OMIM:180700
Stuve-Wiedemann Syndrome 1
Milia, Thin skin, Death in infancy, Premature skin wrinkling, Smooth tongue, Pursed lips, Carious... OMIM:601559
Orofaciodigital Syndrome Type 2
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... ORPHA:2751
Angelman Syndrome
Protruding tongue, Macroglossia, Wide mouth, Widely spaced teeth OMIM:105830
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Short philtrum, Tracheoesophageal fistula, Orofaci... ORPHA:958
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Penetrating foot ulcers, Tongue atrophy ORPHA:99956
Ritscher-Schinzel Syndrome 2
Protruding tongue, Short philtrum OMIM:300963
Autosomal Dominant Robinow Syndrome
Sacral dimple, Naevus flammeus of the eyelid, Bifid tongue, Long philtrum, High, narrow palate, H... ORPHA:3107
Hallermann-Streiff Syndrome
Dermal atrophy, Natal tooth, Supernumerary tooth, Narrow mouth, Abnormality of the tongue, High, ... ORPHA:2108
Angelman Syndrome Due To A Point Mutation
Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:411511
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Nevus, Cafe-au-lait spot, Cleft soft palate, Wide mouth, Widely spaced teeth, Deep... OMIM:619950
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Protruding tongue, Smooth philtrum ORPHA:324410
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Stomatitis, Glossitis, Tracheoesophageal fistula, Thin upper lip vermilion OMIM:277380
Contractures-Developmental Delay-Pierre Robin Syndrome
Cleft palate, High, narrow palate, Glossoptosis ORPHA:436003
Pachyonychia Congenita 3
Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia OMIM:615726
Icf Syndrome
Malabsorption, Protruding tongue, Macroglossia ORPHA:2268
Robinow Syndrome, Autosomal Recessive 1
Bifid tongue, Long philtrum, Wide mouth, Macroglossia, Nevus flammeus, Thin upper lip vermilion, ... OMIM:268310
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Natal tooth, Median cleft lip and palate, Median cleft lip, Intestinal malrotat... OMIM:269860
Gracile Bone Dysplasia
Ankyloglossia, Death in infancy OMIM:602361
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Wide mouth OMIM:614325
Au-Kline Syndrome
Sacral dimple, Dental malocclusion, Bifid tongue, High palate, Oligodontia, Bifid uvula, Downturn... OMIM:616580
Congenital Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Petechiae ORPHA:93400
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, High, narrow palate, Macroglossia, Redundant neck skin, Protruding tongue, Death in ... OMIM:214100
Marshall-Smith Syndrome
Irregular dentition, Melanocytic nevus, High palate, Microdontia, Pyloric stenosis, Gingival over... OMIM:602535
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Gingival overgrowth, Long philtrum OMIM:619179
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Carey-Fineman-Ziter Syndrome 1
High palate, Pierre-Robin sequence, Microglossia, Cleft palate, Glossoptosis OMIM:254940
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Bifid tongue, Anal atresia, Intestinal malrotation, Cleft palate, Hamartoma of t... OMIM:613091
Autosomal Dominant Cerebellar Ataxia
Tongue fasciculations, Erythema, Tongue atrophy ORPHA:99
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Robinow Syndrome
Marked delay in eruption of permanent teeth, Dental malocclusion, Tooth malposition, Bifid tongue... ORPHA:97360
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Thick lower lip vermilion, Macroglossia, Diastema, Protruding tongue, Widely-spaced maxillary cen... OMIM:301040
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Stomatitis, Glossitis ORPHA:79284
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Microglossia ORPHA:990
Giant Cell Arteritis
Skin ulcer, Glossitis ORPHA:397
Kleefstra Syndrome Due To 9Q34 Microdeletion
Everted lower lip vermilion, Downturned corners of mouth, Protruding tongue, Macroglossia ORPHA:96147
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:98794
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Microdontia, Oral leukoplakia OMIM:148210
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth ORPHA:93399
Cerebrocostomandibular Syndrome
Pierre-Robin sequence, Cleft soft palate, High palate, Long philtrum, Anteriorly placed anus, Sho... OMIM:117650
Otopalatodigital Syndrome Type 2
Pierre-Robin sequence, Oligodontia, Anodontia, Narrow mouth, Cleft palate, Glossoptosis ORPHA:90652
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Narrow mouth, Gingival overgrowth OMIM:230600
Tarp Syndrome
Pierre-Robin sequence, Tongue nodules, Abnormal duodenum morphology, Alveolar ridge overgrowth, C... ORPHA:2886
Opitz Gbbb Syndrome
High palate, Long philtrum, Ectopic anus, Natal tooth, Preauricular pit, Hypodontia, Ankyloglossi... ORPHA:2745
Cerebrocostomandibular Syndrome
Short hard palate, Cleft palate, Glossoptosis, Death in infancy ORPHA:1393
Pelvis-Shoulder Dysplasia
Cleft palate, Microglossia, Thick anterior alveolar ridges ORPHA:2839
Helsmoortel-Van Der Aa Syndrome
Thin skin, Long philtrum, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Microdontia... OMIM:615873
Fontaine Progeroid Syndrome
Long philtrum, Dermal translucency, Death in infancy, Microdontia, Oligodontia, Premature skin wr... OMIM:612289
Pallister-Hall Syndrome
Cleft upper lip, Natal tooth, Anal atresia, Anteriorly placed anus, Microglossia, Cleft palate, N... OMIM:146510
Smith-Lemli-Opitz Syndrome
Bifid tongue, Long philtrum, Wide mouth, Aganglionic megacolon, Pyloric stenosis, Advanced erupti... ORPHA:818
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Broad alveolar ridges, Multiple cafe-au-lait spots, Smooth philtrum, Cleft lip, Furr... OMIM:616975
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Lenz-Majewski Hyperostotic Dwarfism
Enamel hypoplasia, Thin skin, Cutis laxa, Anteriorly placed anus, Microglossia, Cleft palate, Abn... OMIM:151050
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Glossoptosis ORPHA:94068
Achondrogenesis, Type Ia
Protruding tongue, Stillbirth OMIM:200600
Distal 22Q11.2 Microdeletion Syndrome
Ankyloglossia, Pyloric stenosis, Thin upper lip vermilion, Narrow mouth, Smooth philtrum, Cleft p... ORPHA:261330
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Aganglionic megacolon, Pallor, Abnormal tongue morphology, Thick vermilion b... ORPHA:653
Angelman Syndrome
Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:72
Mucoepithelial Dysplasia, Hereditary
Furrowed tongue, Erythematous oral mucosa OMIM:158310
Developmental And Epileptic Encephalopathy 100
Enamel hypoplasia, High palate, Microdontia, Protruding tongue, Tented upper lip vermilion, Gingi... OMIM:619777
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, High palate, Bifid uvula, Narrow mouth, Cleft palate, Glo... OMIM:616145
Joubert Syndrome 1
Protruding tongue, Triangular-shaped open mouth, Macroglossia OMIM:213300
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Distal Monosomy 15Q
Bifid tongue, Short philtrum, Aplasia cutis congenita over the scalp vertex, Thin upper lip vermi... ORPHA:1596
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Milia, Enamel hypoplasia, Esophageal ulceration, Erosion of oral mucosa, Ankyloglossia, Atrophic ... ORPHA:79408
Hutchinson-Gilford Progeria Syndrome
Dermal atrophy, Lack of skin elasticity, High palate, Delayed eruption of teeth, Short lingual fr... ORPHA:740
Stickler Syndrome
Cleft upper lip, Long philtrum, Advanced eruption of teeth, Macroglossia, Open bite, Tooth agenes... ORPHA:828
Glucagonoma
Stomatitis, Glossitis, Steatorrhea, Intestinal obstruction, Necrolytic migratory erythema ORPHA:97280
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Long philtrum ORPHA:250989
Yunis-Varon Syndrome
Gingival recession, Short upper lip, Broad secondary alveolar ridge, Premature loss of primary te... ORPHA:3472
Orofaciodigital Syndrome Type 14
Lobulated tongue, Bifid tongue, Supernumerary tooth, Aplasia of the epiglottis, Accessory oral fr... ORPHA:434179
Meckel Syndrome, Type 1
Lobulated tongue, Cleft upper lip, Wide mouth, Natal tooth, Anal atresia, Intestinal malrotation,... OMIM:249000
Distal Monosomy 12Q
Long philtrum, Esophageal atresia, Pyloric stenosis, Supernumerary tooth, Median cleft lip, Micro... ORPHA:96149
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Microglossia, Cleft palate, Hamartoma of tongue OMIM:263520
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Cousin Syndrome
Cleft palate, Microglossia, Alveolar ridge overgrowth OMIM:260660
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Open mouth, Protruding tongue, Macroglossia ORPHA:258
Orofaciodigital Syndrome Xiv
Lobulated tongue, Bifid tongue, Natal tooth, Supernumerary tooth, Aplasia of the epiglottis, Ante... OMIM:615948
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Long philtrum, Macroglossia, Thin upper lip vermilion, Downturned corners of mouth, ... ORPHA:444077
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Melanocytic nevus, Ankyloglossia, Thick vermilion border, Short philtrum, Thin upper... OMIM:619475
Fraser Syndrome
Dental malocclusion, Cleft upper lip, Bifid tongue, High palate, Ectopic anus, Death in infancy, ... ORPHA:2052
Smith-Lemli-Opitz Syndrome
Sacral dimple, Long philtrum, Death in infancy, Aganglionic megacolon, Pyloric stenosis, Bifid uv... OMIM:270400
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Cleft palate, Downturned corners of mouth, Ankyloglossia ORPHA:488642
Degcags Syndrome
Sacral dimple, High palate, Long philtrum, Wide mouth, Jejunal atresia, Pyloric stenosis, Pallor,... OMIM:619488
Plague
Localized skin lesion, Enterocolitis, Skin ulcer, Glossitis, Chapped lip, Inflammation of the lar... ORPHA:707
Down Syndrome
Aganglionic megacolon, Anal atresia, Duodenal stenosis, Macroglossia, Redundant neck skin, Protru... OMIM:190685
Okamoto Syndrome
Exaggerated median tongue furrow, Redundant neck skin, Intestinal malrotation, Tented upper lip v... ORPHA:2729
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Carney Complex
Nodular changes affecting the eyelids, Neoplasm of the stomach, Striae distensae, Abnormal hard p... ORPHA:1359
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short upper lip, High palate, Wide mouth, Thick lower lip vermilion, Macroglossia, Thin upper lip... OMIM:309580
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Protruding tongue, High palate OMIM:617062
Kawasaki Disease
Palmoplantar erythema, Glossitis, Cheilitis ORPHA:2331
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Long philtrum, Natal tooth ORPHA:50945
Microsporidiosis
Glossitis, Skin nodule ORPHA:2552
Meckel Syndrome
Furrowed tongue, Cleft palate, Aplasia/Hypoplasia of the tongue ORPHA:564
Simpson-Golabi-Behmel Syndrome, Type 1
Dental malocclusion, Narrow palate, Wide mouth, Exaggerated median tongue furrow, Preauricular pi... OMIM:312870
Stüve-Wiedemann Syndrome
Sacral dimple, Smooth tongue, Abnormality of the dentition ORPHA:3206
Viss Syndrome
High palate, Cleft soft palate, Cutis laxa, Bifid tongue, Bifid uvula, Macroglossia, Intestinal m... OMIM:619472
Chilton-Okur-Chung Neurodevelopmental Syndrome
Agenesis of incisor, Wide mouth, Widely spaced teeth, Ankyloglossia, Short philtrum, Thin upper l... OMIM:619841
Neuroocular Syndrome
Sacral dimple, Widely spaced teeth, Ankyloglossia, Submucous cleft hard palate, Torus palatinus, ... OMIM:619539
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Bifid tongue, Long philtrum, Ectopic anus, Esophageal atresia, Anal atresia ORPHA:93271
Pallister-Hall Syndrome
Natal tooth, Bifid uvula, Anal atresia, Microglossia, Cleft lip, Accessory oral frenulum, Cleft p... ORPHA:672
Congenital Disorder Of Glycosylation, Type Iiw
Ankyloglossia, Supernumerary tooth OMIM:619525
Microphthalmia, Syndromic 6
Cleft palate, Bifid uvula, High palate, Microglossia OMIM:607932
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Enamel hypoplasia, Abnormal oral mucosa morphology 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

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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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