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
increased kidney weight Lamb3tm1b(KOMP)Wtsi HOM Early adult 2.22×10-05
abnormal tooth morphology Lamb3tm1b(KOMP)Wtsi HOM Early adult 5.06×10-22
abnormal skin morphology Lamb3tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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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 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Lateral Orientation

13 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Embryo LacZ

LacZ images wholemount

8 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
Pemphigoid Gestationis
Skin vesicle, Failure to thrive ORPHA:63275
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Skin erosion, Localized skin lesion, Carious teeth, Keloids, Skin vesicle,... ORPHA:79410
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmoplantar erythema, Increased body weight, Facial erythema, Erythematous plaque, Striae disten... ORPHA:64745
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Anal mucosal leukoplakia, Skin vesicle, Plantar pits ORPHA:218
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Dowling-Degos Disease
Hypermelanotic macule, Epidermoid cyst, Hypopigmented macule, Anal margin squamous cell carcinoma... ORPHA:79145
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Pemphigus Foliaceus
Skin erosion, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Abnormal oral muc... ORPHA:79481
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Familial Benign Chronic Pemphigus
Skin vesicle, Erythema, Skin erosion ORPHA:2841
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Wells Syndrome
Skin vesicle ORPHA:901
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Papule, Aplasia/Hypoplasia of the skin, Skin vesicle, Dermal a... ORPHA:257
Dermatitis Herpetiformis
Skin vesicle, Macule, Malabsorption, Erythema ORPHA:1656
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Pyoderma Gangrenosum
Papule, Inflammation of the large intestine, Atrophic scars, Skin ulcer, Skin vesicle ORPHA:48104
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans ORPHA:158681
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Iga Pemphigus
Oral mucosal blisters, Skin erosion, Annular cutaneous lesion, Skin plaque, Ulcerative colitis, S... ORPHA:555905
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Papule, Gingivitis, Skin u... ORPHA:2314
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis OMIM:613102
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death OMIM:301021
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Hennekam-Beemer Syndrome
Macule, Failure to thrive, Erythema, Papule, Subcutaneous nodule, Skin vesicle ORPHA:2135
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Porphyria Variegata
Skin vesicle, Milia, Skin erosion, Localized skin lesion ORPHA:79473
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Dyskeratosis Congenita
Macule, Malabsorption, Periodontitis, Taurodontia, Hypodontia, Hypermelanotic macule, Abnormality... ORPHA:1775
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Sweet Syndrome
Erythematous plaque, Erythematous papule, Skin nodule, Skin vesicle, Pyoderma gangrenosum ORPHA:3243
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Leukocyte Adhesion Deficiency Type Ii
Premature loss of teeth, Gingival overgrowth, Narrow palate, Long upper lip, Severe periodontitis... ORPHA:99843
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ... OMIM:614669
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Neonatal death, Congenital pylo... OMIM:619817
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Gingival overgrowth, Polyuria, Dagger-shaped pulp calcifica... OMIM:204690
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Lipoid Proteinosis
High palate, Papule, Abnormal oral mucosa morphology, Tongue nodules, Subcutaneous nodule, Microg... ORPHA:530
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... OMIM:263200
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth OMIM:226650
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... ORPHA:353253
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Hartnup Disorder
Glossitis OMIM:234500
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Impaired renal concentrating ability, Gingival overgrowth, Hyp... ORPHA:1031
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Anterior open-bite malocclusion, P... OMIM:602483
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth OMIM:618732
Plummer-Vinson Syndrome
Narrow mouth, Cheilitis, Esophageal web, Pallor, Intra-oral hyperpigmentation, Glossitis, Tongue ... ORPHA:54028
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Cleft palate, Micropenis, Malar flattening, Hypospadias, Micrognathia, Hyperecho... OMIM:612651
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Chikungunya
Macule, Petechiae, Erythema, Gingival bleeding, Skin vesicle ORPHA:324625
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Proteinuria, Ab... ORPHA:251004
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Diaphanospondylodysostosis
Cleft palate, Nephrogenic rest, Micrognathia, Cystic renal dysplasia, Enlarged kidney, Nephroblas... OMIM:608022
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Preauricular skin tag... ORPHA:137888
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Macroglossia, E... OMIM:617303
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Narrow palate, Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication,... OMIM:608836
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Long philtrum, Whistling appearance, Microglossia OMIM:277720
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth, Neonatal death OMIM:227270
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Recur... OMIM:613680
Chronic Graft Versus Host Disease
Erythema, Intermittent generalized erythematous papular rash, Skin ulcer, Skin vesicle, Weight loss ORPHA:99921
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypoplasia of teeth, Hyperphosphaturia, Carious teeth OMIM:613312
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Tooth malposition, Everted lower lip vermilion, Short philtrum, Furrowed tongue ORPHA:1387
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Preauricular pit, Preauricular skin tag,... OMIM:616367
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Bazex Syndrome
Nevus, Furrowed tongue, Milia OMIM:301845
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Cleft palate, Micropenis, Bifid tongue, Renal dysplasia, Enlarged kidney, Hamart... OMIM:613091
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Carious teeth, Pyloric stenosis, Enamel hypoplasia, Milia, ... OMIM:226700
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... OMIM:232220
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology ORPHA:97230
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Cleft palate, Tongue nodules OMIM:277170
Pallister-Hall-Like Syndrome
Median cleft lip, Microglossia, Death in infancy, Cleft palate OMIM:241800
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short philtrum, Bifid tongue, Short lingual frenulum, Abnormal pala... ORPHA:3241
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Taur... OMIM:211900
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Periodontitis, Hepatomegaly, Enlarged kidney, Tubulointerstitial fibrosis, Cario... ORPHA:79259
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Seckel Syndrome 2
Microglossia, Microdontia, Few cafe-au-lait spots OMIM:606744
Mulibrey Nanism
Dental malocclusion, Hypodontia, Enamel hypoplasia, Dental crowding, Microglossia, Nevus flammeus OMIM:253250
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Sialadenitis, Nephrotic range proteinuria, Ur... ORPHA:449395
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... OMIM:232200
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Renal ... OMIM:208540
Alg9-Cdg
Wide mouth, Ureteral hypoplasia, Hepatomegaly, Microretrognathia, Micrognathia, Hypoplasia of the... ORPHA:79328
Acrodermatitis Enteropathica
Abnormality of the tongue, Malabsorption, Cheilitis, Erythema, Dry skin, Glossitis, Furrowed tong... ORPHA:37
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
H Syndrome
Cleft upper lip, Gingival overgrowth, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, ... ORPHA:168569
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... OMIM:174300
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Macroglossia, Pancreatic hyperplasia, Nephro... OMIM:130650
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Lobulated tongue, Hamartoma of tongue, Tongue... OMIM:258860
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue, Erythema OMIM:614204
Mucolipidosis Ii Alpha/Beta
Wide mouth, Gingival overgrowth, Hepatomegaly, Macroglossia, Splenomegaly, Micrognathia, Long phi... OMIM:252500
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Glossoptosis, High, narrow palate, Hypodontia, Submucous cleft hard palate ORPHA:3201
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Macroglossia, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarge... ORPHA:505248
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Milia, Atrophic scars, Scarring alopecia of scalp, Apla... ORPHA:79402
Treacher Collins Syndrome 1
Wide mouth, Narrow mouth, Hypoplasia of the pharynx, Cleft palate, Preauricular skin tag, Abnorma... OMIM:154500
Cronkhite-Canada Syndrome
Malabsorption, Stomach cancer, Furrowed tongue, Intestinal polyposis, Colon cancer, Hypogeusia, H... ORPHA:2930
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Protruding tongue, Thick vermilion border, Few cafe-au-... OMIM:618106
Hereditary Acrokeratotic Poikiloderma
Narrow mouth, Open bite, Abnormality of the dentition, Xerostomia, Premature loss of primary teet... ORPHA:2907
Hartnup Disease
Gingivitis, Glossitis, Malabsorption, Hypopigmented skin patches ORPHA:2116
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Open mouth, Hypoplasia o... OMIM:200990
Kaposiform Lymphangiomatosis
Multiple renal cysts, Hepatosplenomegaly, Splenomegaly, Enlarged kidney ORPHA:464329
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia ORPHA:2221
Ogden Syndrome
High palate, Thick upper lip vermilion, Global glomerulosclerosis, Narrow palate, Microretrognath... OMIM:300855
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in childhood, Bifid uvula, ... OMIM:612938
Mandibuloacral Dysplasia
High palate, Dental crowding, Thin skin, Abnormal tongue morphology, Hypoplasia of teeth ORPHA:2457
Mcdonough Syndrome
Dental malocclusion, Short philtrum, Furrowed tongue OMIM:248950
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Wide mouth, Hepatomegaly, Cleft palate, Splenomegaly, Congenital megaureter, Mac... ORPHA:116
X-Linked Agammaglobulinemia
Glossoptosis, Skin ulcer, Malabsorption, Hypopigmented skin patches ORPHA:47
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Trisomy 8Q
High palate, Cleft palate, Everted lower lip vermilion, Bifid tongue, Oral cleft, Abnormal oral f... ORPHA:1752
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Hypodontia, Palmoplantar erythema, Agenesis of permanent teeth, Eryt... OMIM:257980
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Renal Fa... OMIM:276700
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Micrognathia, Hepatosplenomegaly, R... ORPHA:731
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue ORPHA:2759
Moebius Syndrome
High palate, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Cleft palate, Everted lower lip ve... ORPHA:570
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Abnormality of the dentition, Microdonti... ORPHA:870
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Supernumerary tooth, Cleft palate, Agene... OMIM:311200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Enlarged kidney, Thick ... ORPHA:500095
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... ORPHA:1358
Cowden Syndrome 5
High palate, Narrow mouth, Skin tags, Furrowed tongue, Colonic diverticula, Hamartomatous polyposis OMIM:615108
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Bifid tongue, Lo... OMIM:252100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligodont... ORPHA:364577
Chand Syndrome
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Dry skin,... ORPHA:1401
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Furrowed tongue ORPHA:2483
Autosomal Recessive Robinow Syndrome
Ectopic anus, Wide mouth, Gingival overgrowth, Supernumerary tooth, Hypodontia, Open bite, Abnorm... ORPHA:1507
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Catel-Manzke Syndrome
High palate, Glossoptosis, Cleft palate, Cleft upper lip OMIM:616145
Omphalocele Syndrome, Shprintzen-Goldberg Type
Downturned corners of mouth, Anal atresia, Thin upper lip vermilion, Hypoplasia of the pharynx ORPHA:3164
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue, Dry skin OMIM:618797
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Bilateral cleft lip and palate, Cafe-au-lait spot, Ankyloglossia,... OMIM:618874
Hereditary Folate Malabsorption
Pallor, Glossitis, Cheilitis ORPHA:90045
Developmental And Epileptic Encephalopathy 80
High palate, Wide mouth, Long philtrum, Tented upper lip vermilion, Death in infancy, Protruding ... OMIM:618580
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Skin erosion, Abnormal esophagus morphology, Carious teeth, Esophageal stricture, A... ORPHA:89842
Cowden Syndrome 6
High palate, Narrow mouth, Skin tags, Furrowed tongue, Colonic diverticula, Hamartomatous polyposis OMIM:615109
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Exaggerated median tongue furrow ORPHA:313892
Marshall-Smith Syndrome
Gingival overgrowth, Protruding tongue, Thin skin, Open mouth ORPHA:561
Orofaciodigital Syndrome Type 1
High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Hypodontia, Cleft palate... ORPHA:2750
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid uvula, Death in infancy ORPHA:1790
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... ORPHA:2752
Agnathia-Otocephaly Complex
Aglossia, Microglossia, Narrow mouth, Cleft palate OMIM:202650
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Cleft palate, Microdontia, Microglossia ORPHA:1307
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Hypodont... ORPHA:989
Cowden Syndrome 1
High palate, Narrow mouth, Acrokeratosis, Skin tags, Furrowed tongue, Colonic diverticula, Hamart... OMIM:158350
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligodontia, Long philtru... OMIM:608670
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate ORPHA:2001
Hypoglossia-Hypodactylia
Microglossia, Narrow mouth, Aglossia OMIM:103300
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Dental malocclusion, Gingival overgrowth, Hepatomegaly, Narrow palate, Cleft palate, ... OMIM:312870
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth ORPHA:531151
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Gingival overgrowth, Everted lower lip vermilion, Thin vermilion border, Abnormality ... OMIM:212066
Lelis Syndrome
Furrowed tongue, Hypodontia, Carious teeth ORPHA:140936
Cohen Syndrome
Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the tongue, High, narrow palate, Abnor... ORPHA:193
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Erythema, Enamel hypoplasia, Sm... ORPHA:79396
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Glossoptosis, Carious teeth ORPHA:93346
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Leprechaunism
Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Thick vermilion bord... ORPHA:508
Tarp Syndrome
High palate, Tongue nodules, Cleft palate, Glossoptosis OMIM:311900
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy OMIM:614153
Frontorhiny
Dermoid cyst, Bifid tongue, Cleft palate, Preauricular skin tag ORPHA:391474
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Agenesis of permanent t... OMIM:616894
Rabson-Mendenhall Syndrome
High palate, Gingival overgrowth, Macroglossia, Abnormality of the dentition, Advanced eruption o... ORPHA:769
Agel Amyloidosis
Cutis laxa, Xerostomia, Dry skin, Diffuse skin atrophy, Tongue atrophy ORPHA:85448
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Neonatal death, Microdo... OMIM:259775
Intellectual Developmental Disorder, Autosomal Dominant 29
High palate, Dental crowding, Narrow mouth, Narrow palate, Long philtrum, Open mouth, Thick vermi... OMIM:616078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Glossitis, Protein-losing enteropathy, Hamartomatous polyposis OMIM:175500
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Anoperineal fistula, Abnormality of the dentition, Carious teeth, Scaling skin, Abnorm... ORPHA:158668
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum OMIM:300534
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy ORPHA:276198
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnormality of t... ORPHA:1452
Shprintzen Omphalocele Syndrome
Thin vermilion border, Anal atresia, Hypoplasia of the pharynx OMIM:182210
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98795
Ramos-Arroyo Syndrome
Narrow mouth, Xerostomia, Long philtrum, Carious teeth, Smooth tongue, Shoulder dimple, Aganglion... ORPHA:1051
Kinsship Syndrome
Wide mouth, Gingival overgrowth, Short philtrum, Downturned corners of mouth, Widely spaced teeth... OMIM:619297
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Everted lower lip vermi... OMIM:610253
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Cleft palate, Everted lower lip vermilion, Nevus flammeus of the forehead, S... ORPHA:464738
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Glossitis, Thin upper lip vermilion, Stomatitis OMIM:277380
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Cleft palate, Macroglossia, Oligodontia, Preauricular pit, Bifid uvula, Downturned c... ORPHA:453499
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Bifid uvula, Cleft palate ORPHA:1427
Imerslund-Gräsbeck Syndrome
Pallor, Glossitis, Angular cheilitis ORPHA:35858
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Macroglossia OMIM:242860
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Orofaciodigital Syndrome Type 6
High palate, Cleft palate, Lobulated tongue, Hamartoma of tongue, Midline notch of upper alveolar... ORPHA:2754
Cowden Syndrome
High palate, Macule, Macroglossia, Papule, Furrowed tongue, Colorectal polyposis, Subcutaneous no... ORPHA:201
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Tooth agenesis, High, narrow palate, Cleft palate, Open bite, Macroglossia, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Tooth agenesis, High, narrow palate, Cleft palate, Open bite, Macroglossia, ... ORPHA:352665
Robinow Syndrome, Autosomal Dominant 1
High palate, Gingival overgrowth, Narrow palate, Persistence of primary teeth, Triangular mouth, ... OMIM:180700
Stuve-Wiedemann Syndrome 1
Pursed lips, Thin vermilion border, Carious teeth, Smooth tongue, Milia, Death in infancy, Thin s... OMIM:601559
Angelman Syndrome
Widely spaced teeth, Wide mouth, Protruding tongue, Macroglossia OMIM:105830
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy OMIM:211530
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Cleft palate OMIM:615065
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Macroglossia, Long philtrum, Protruding tongue, Dental crowding OMIM:141750
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Supernumerary tooth, High, narrow palate, Glossoptosis, ... ORPHA:2108
Ritscher-Schinzel Syndrome 2
Short philtrum, Protruding tongue OMIM:300963
Autosomal Dominant Robinow Syndrome
Anodontia, Gingival overgrowth, Naevus flammeus of the eyelid, Supernumerary tooth, High, narrow ... ORPHA:3107
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, High, narrow palate, Cleft palate, Excessive wrinkled skin, Eclabion, Short philtrum,... OMIM:619950
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:411511
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Penetrating foot ulcers, Tongue atrophy ORPHA:99956
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Smooth philtrum, Everted lower lip vermilion ORPHA:324410
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Short philtrum, Oral cleft ORPHA:958
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Enlarged kidney, Horseshoe kidney, Cardiomegaly OMIM:306955
Pachyonychia Congenita 3
Gingivitis, Oral leukoplakia, Chapped lip, Furrowed tongue OMIM:615726
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft palate, Bifid tongue, Lobulated tongue, Cleft lip, Natal tooth OMIM:616300
Contractures-Developmental Delay-Pierre Robin Syndrome
Glossoptosis, High, narrow palate, Cleft palate ORPHA:436003
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Gingival overgrowth, Triangular mouth, Macroglossia, Bifid tongue, Long philtrum, Ten... OMIM:268310
Icf Syndrome
Malabsorption, Protruding tongue, Macroglossia ORPHA:2268
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Congenital Sialidosis Type 2
Gingival overgrowth, Petechiae, Protruding tongue ORPHA:93400
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, High, narrow palate, Macroglossia, Death in childhood, Protruding tongue, Redundant ... OMIM:214100
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Neonatal death, Lobulated tongue, Hamartoma of tongue, Median cleft lip a... OMIM:269860
Ring Chromosome 22 Syndrome
Thick vermilion border, Protruding tongue ORPHA:1446
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, Cleft palate, Glossoptosis, Pierre-Robin sequence, Microglossia OMIM:254940
Robinow Syndrome
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... ORPHA:97360
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Autosomal Dominant Cerebellar Ataxia
Tongue fasciculations, Erythema, Tongue atrophy ORPHA:99
Marshall-Smith Syndrome
High palate, Gingival overgrowth, Short mandibular rami, Glossoptosis, Eclabion, Death in childho... OMIM:602535
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Protruding tongue, Macroglossia, Everted lower lip vermilion ORPHA:96147
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98794
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Macroglossia, Diastema, Protruding tongue, Thick vermilion border, ... OMIM:301040
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Protruding tongue, Narrow mouth OMIM:230600
Giant Cell Arteritis
Skin ulcer, Glossitis ORPHA:397
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93399
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia, Microdontia OMIM:148210
Otopalatodigital Syndrome Type 2
Anodontia, Narrow mouth, Cleft palate, Glossoptosis, Oligodontia, Pierre-Robin sequence ORPHA:90652
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Death in infancy, Cleft palate ORPHA:1393
Tarp Syndrome
Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodul... ORPHA:2886
Opitz Gbbb Syndrome
High palate, Anal atresia, Ectopic anus, Hypodontia, Cleft palate, Tracheoesophageal fistula, Lon... ORPHA:2745
Congenital Disorder Of Glycosylation, Type Iie
Thick vermilion border, Narrow mouth, Protruding tongue, Smooth philtrum OMIM:608779
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Cleft palate ORPHA:2839
Fontaine Progeroid Syndrome
Narrow mouth, High, narrow palate, Everted lower lip vermilion, Redundant skin, Oligodontia, Long... OMIM:612289
Lenz-Majewski Hyperostotic Dwarfism
Cutis laxa, Abnormality of the dentition, Thin skin, Anteriorly placed anus, Microglossia OMIM:151050
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Duodenal atresia, Furrowed tongue, Cleft lip, Broad alveolar ridges, Multiple cafe-a... OMIM:616975
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Cerebrocostomandibular Syndrome
High palate, Glossoptosis, Abnormality of the dentition, Short hard palate, Long philtrum, Anal s... OMIM:117650
Smith-Lemli-Opitz Syndrome
Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Cleft palate, Bifid tongue,... ORPHA:818
Pallister-Hall Syndrome
Cleft upper lip, Anal atresia, Cleft palate, Neonatal death, Anteriorly placed anus, Natal tooth,... OMIM:146510
Achondrogenesis, Type Ia
Protruding tongue, Stillbirth OMIM:200600
Multiple Endocrine Neoplasia Type 2
Pallor, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology, Aganglionic mega... ORPHA:653
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Pyloric stenosis, Ankyloglossia, Thin upper lip ... ORPHA:261330
Angelman Syndrome
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:72
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney OMIM:618280
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Cousin Syndrome
Alveolar ridge overgrowth, Microglossia, Cleft palate OMIM:260660
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Microdontia, Enamel hypoplasia, Protruding tongue, Tented upper... OMIM:619777
Joubert Syndrome 1
Triangular-shaped open mouth, Protruding tongue, Macroglossia OMIM:213300
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Cleft palate, Bifid tongue, Lobulated tongue, Hamartoma of tongue, Aplasia o... OMIM:615948
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Narrow mouth, Oral mucosal blisters, Carious teeth, Aplasia cutis congenita, Milia, Esophageal ul... ORPHA:79408
Hutchinson-Gilford Progeria Syndrome
High palate, Narrow mouth, Persistence of primary teeth, Hypodontia, Hypermelanotic macule, Thin ... ORPHA:740
Stickler Syndrome
Cleft upper lip, Tooth agenesis, Cleft palate, Open bite, Glossoptosis, Macroglossia, Short hard ... ORPHA:828
Glucagonoma
Steatorrhea, Intestinal obstruction, Stomatitis, Glossitis, Necrolytic migratory erythema ORPHA:97280
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Intestinal malrotation, Hamartoma of tongue, Median cleft lip, Microglossia OMIM:263520
Distal Monosomy 12Q
Duodenal atresia, Supernumerary tooth, High, narrow palate, Long philtrum, Pyloric stenosis, Medi... ORPHA:96149
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Supernumerary tooth, Cleft palate, Bifid tongue, Lobulated tongue, Hamar... ORPHA:434179
1Q21.1 Microdeletion Syndrome
High palate, Ankyloglossia, Long philtrum ORPHA:250989
Distal Monosomy 15Q
Cleft palate, Abnormality of the dentition, Short philtrum, Bifid tongue, Aplasia cutis congenita... ORPHA:1596
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Yunis-Varon Syndrome
High, narrow palate, Glossoptosis, Thin vermilion border, Short philtrum, Premature loss of prima... ORPHA:3472
Meckel Syndrome, Type 1
Cleft upper lip, Wide mouth, Anal atresia, Cleft palate, Intestinal malrotation, Lobulated tongue... OMIM:249000
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Macroglossia, Open mouth ORPHA:258
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Wide mouth, U-Shaped upper lip vermilion, Macroglossia, Hypoplastic philtrum, Tented... OMIM:309580
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Melanocytic nevus, High, narrow palate, Short uvula, Short philtrum, Nevus, Broad ph... OMIM:619475
Fraser Syndrome
High palate, Anal atresia, Ectopic anus, Cleft upper lip, Dental malocclusion, Bifid tongue, Oral... ORPHA:2052
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Macroglossia, Glossoptosis, Long philtrum, Downturned corners of mouth, Thin upper l... ORPHA:444077
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Ankyloglossia, Cleft palate ORPHA:488642
Degcags Syndrome
High palate, Wide mouth, Hiatus hernia, Intestinal atresia, Pallor, Long philtrum, Pyloric stenos... OMIM:619488
Smith-Lemli-Opitz Syndrome
Cleft palate, Intestinal malrotation, Broad alveolar ridges, Long philtrum, Bifid uvula, Pyloric ... OMIM:270400
Okamoto Syndrome
Cleft palate, Open bite, Intestinal malrotation, Downturned corners of mouth, Tented upper lip ve... ORPHA:2729
Plague
Enterocolitis, Dry skin, Inflammation of the large intestine, Localized skin lesion, Glossitis, S... ORPHA:707
Down Syndrome
Anal atresia, Macroglossia, Protruding tongue, Duodenal stenosis, Aganglionic megacolon, Redundan... OMIM:190685
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Carney Complex
Neoplasm of the rectum, Esophageal neoplasm, Blue nevus, Atypical nevi in non-sun exposed areas, ... ORPHA:1359
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstruction, Recurrent urinary ... ORPHA:79404
Microsporidiosis
Glossitis, Skin nodule ORPHA:2552
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Long philtrum, Natal tooth ORPHA:50945
Meckel Syndrome
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:564
Kawasaki Disease
Glossitis, Cheilitis, Palmoplantar erythema ORPHA:2331
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue, Sacral dimple ORPHA:3206
Viss Syndrome
High palate, Chronic gastritis, High, narrow palate, Macroglossia, Cutis laxa, Intestinal malrota... OMIM:619472
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Short philtrum, Widely spaced teeth, Ankyloglossia, Thin upper lip vermilion, Smooth ... OMIM:619841
Neuroocular Syndrome
Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, Increased overbit... OMIM:619539
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Anal atresia, Ectopic anus, Bifid tongue, Long philtrum, Esophageal atresia ORPHA:93271
Pallister-Hall Syndrome
Anal atresia, Accessory oral frenulum, Cleft palate, Bifid uvula, Cleft lip, Natal tooth, Microgl... ORPHA:672
Congenital Disorder Of Glycosylation, Type Iiw
Ankyloglossia, Supernumerary tooth OMIM:619525
Microphthalmia, Syndromic 6
High palate, Microglossia, Bifid uvula, Cleft palate OMIM:607932
Choreoacanthocytosis
Protruding tongue ORPHA:2388

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.

Phenotype Allele Zygosity Sex Life Stage
Tooth - developmental dysplasia Lamb3tm1b(KOMP)Wtsi HOM Early adult

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
Lamb3tm43924(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lamb3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
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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