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

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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 0.72% (4 of 558)
aorta 0.18% (1 of 552)
bone 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
esophagus 1.57% (6 of 381)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 540)
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 549)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
skeletal muscle 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
striatum 0.55% (3 of 547)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
trachea 0.55% (3 of 547)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.09% (5 of 460)
ear 0.22% (1 of 462)
embryo 0.22% (1 of 460)
eye 0.22% (1 of 448)
footplate 0.22% (1 of 464)
forebrain 0.22% (1 of 450)
forelimb 0.22% (1 of 453)
handplate 0.22% (1 of 449)
head 1.08% (5 of 461)
heart 0.23% (1 of 443)
hindbrain 1.1% (5 of 454)
hindlimb 0.22% (1 of 464)
liver 0.22% (1 of 448)
lung 0.22% (1 of 448)
mandibular process 0.22% (1 of 463)
maxillary process 0.22% (1 of 450)
midbrain 0.22% (1 of 453)
oral cavity 0.22% (1 of 455)
skin 0.21% (1 of 469)
tail 0.22% (1 of 445)
tail somite group 0.22% (1 of 457)

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Adult LacZ

LacZ Images Wholemount

6 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Lamb3 mutations

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

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

The table below shows human diseases associated to Lamb3 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pemphigoid Gestationis
Failure to thrive, Skin vesicle ORPHA:63275
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Keloids, Hyperkeratotic papule, Oral mucosal blisters, Atypical scarring of skin, Carious teeth, ... ORPHA:79410
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae, Facial erythema, Erythematous plaque, Palmoplantar erythema, Increased body wei... ORPHA:64745
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Darier Disease
Anal mucosal leukoplakia, Acrokeratosis, Plantar pits, Macule, Hypermelanotic macule, Skin vesicle ORPHA:218
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Dowling-Degos Disease
Epidermoid cyst, Digital pitting scar, Hypopigmented macule, Anal margin squamous cell carcinoma,... ORPHA:79145
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Annular cutaneous lesion, Erythema, Erythematous plaque, Serpigi... ORPHA:79481
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Familial Benign Chronic Pemphigus
Erythema, Skin vesicle, Skin erosion ORPHA:2841
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Wells Syndrome
Skin vesicle ORPHA:901
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Papule, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Skin v... ORPHA:257
Dermatitis Herpetiformis
Macule, Skin vesicle, Erythema, Malabsorption ORPHA:1656
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Pyoderma Gangrenosum
Papule, Inflammation of the large intestine, Skin ulcer, Skin vesicle, Atrophic scars ORPHA:48104
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle ORPHA:158681
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Iga Pemphigus
Oral mucosal blisters, Annular cutaneous lesion, Ulcerative colitis, Skin plaque, Skin vesicle, S... ORPHA:555905
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Papule, Skin vesicle, Gingivitis, Abnormality of the dentition, Skin u... ORPHA:2314
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis OMIM:613102
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin OMIM:301021
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Hennekam-Beemer Syndrome
Erythema, Papule, Macule, Subcutaneous nodule, Failure to thrive, Skin vesicle ORPHA:2135
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormal oral mucosa morph... ORPHA:85445
Porphyria Variegata
Localized skin lesion, Milia, Skin vesicle, Skin erosion ORPHA:79473
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Dyskeratosis Congenita
Oral leukoplakia, Hypopigmented skin patches, Hypodontia, Carious teeth, Tracheoesophageal fistul... ORPHA:1775
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis OMIM:614876
Sweet Syndrome
Erythematous plaque, Skin vesicle, Pyoderma gangrenosum, Skin nodule, Erythematous papule ORPHA:3243
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibular condyle ap... OMIM:614669
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Leukocyte Adhesion Deficiency Type Ii
Deep philtrum, Skin vesicle, Severe periodontitis, Premature loss of teeth, Protruding tongue, Na... ORPHA:99843
Burning Mouth Syndrome
Tongue pain, Parageusia, Smooth tongue, Abnormality of taste sensation, Burning mouth, Strawberry... ORPHA:353253
Pycnodysostosis
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... OMIM:265800
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Lipoid Proteinosis
Tongue nodules, High palate, Abnormal oral mucosa morphology, Thick lower lip vermilion, Papule, ... ORPHA:530
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Tubulointer... OMIM:263200
Hartnup Disorder
Glossitis OMIM:234500
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Nephrocalcinosis, Polyuria, Enuresis, Delayed eruption of permanent teet... OMIM:204690
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Delayed eruption of permanent teeth, Nephrotic syndrome, Protei... ORPHA:839
Enamel-Renal Syndrome
Amelogenesis imperfecta, Nephrocalcinosis, Delayed eruption of teeth, Enuresis, Yellow-brown disc... ORPHA:1031
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Dental crowding, Anterior open-bite malocclusion, Glossoptosi... OMIM:602483
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum OMIM:618732
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Carious teeth, Oral mucosal blisters OMIM:226650
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... 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
Plummer-Vinson Syndrome
Narrow mouth, Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Pallor, Glossitis, Esophag... ORPHA:54028
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Cleft upper lip, Micropenis, Hypospadias, Micrognathia, Natal tooth, Malar flatt... OMIM:612651
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:615415
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Abnormal dental enamel morphology, Membranop... ORPHA:251004
Chikungunya
Petechiae, Gingival bleeding, Erythema, Macule, Skin vesicle ORPHA:324625
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Micrognathia, Nephroblastomatosis, Cle... OMIM:608022
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Periauricular skin pits, Hamartoma of tongue, Microglossia, Dental cro... ORPHA:137888
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Carious teeth, Hyperphosphaturia, Hypoplasia of teeth OMIM:613312
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Proteinuria, Splenomegaly, Hepatomegaly, Macroglossia, Renal... OMIM:617303
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Microglossia, Whistling appearance OMIM:277720
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Enlarged kidney, Ureteral duplication, Hydronephrosis, Hepatomegaly, Polycystic kidn... OMIM:608836
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Enamel hypoplasia, Carious teeth, Pyloric stenosis, Death i... OMIM:226700
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Neonatal death, Microglossia OMIM:227270
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth ORPHA:3145
Mandibulofacial Dysostosis With Alopecia
Preauricular pit, Everted lower lip vermilion, Delayed eruption of primary teeth, Dental crowding... OMIM:616367
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Chronic Graft Versus Host Disease
Weight loss, Intermittent generalized erythematous papular rash, Erythema, Skin ulcer, Skin vesicle ORPHA:99921
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Everted lower lip vermilion, Furrowed tongue, Tooth malposition ORPHA:1387
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Cleft upper lip, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia, R... OMIM:613091
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology ORPHA:97230
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Pallister-Hall-Like Syndrome
Microglossia, Death in infancy, Cleft palate, Median cleft lip OMIM:241800
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Cleft upper lip, Cleft palate OMIM:277170
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Enamel hypoplasia, Pulp calcificat... OMIM:211900
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Re... OMIM:208540
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Microglossia OMIM:612776
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Mulibrey Nanism
Enamel hypoplasia, Hypodontia, Microglossia, Nevus flammeus, Dental crowding, Dental malocclusion OMIM:253250
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Nephrolithiasis, Proteinuria, Periodontitis, Carious teeth, He... ORPHA:79259
Seckel Syndrome 2
Microglossia, Microdontia, Few cafe-au-lait spots OMIM:606744
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Abnormal ureter morphology, Hematuria, Proteinuria... ORPHA:449395
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Acrodermatitis Enteropathica
Erythema, Abnormality of the tongue, Cheilitis, Furrowed tongue, Malabsorption, Skin ulcer, Dry s... ORPHA:37
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300602
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Alg9-Cdg
Enlarged kidney, Bifid uvula, Ureteral hypoplasia, Long philtrum, Hydronephrosis, Hepatomegaly, M... ORPHA:79328
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Microdontia, Supernumerary tooth, Bifid tongue OMIM:258850
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Cleft upper lip, Micropenis, Abnormality of the kidney, Ging... ORPHA:168569
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Splenomegaly, He... OMIM:276700
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Pancreatic hyperplasia,... OMIM:130650
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Lobulated tongue, Hamartoma of tongue, Clef... OMIM:258860
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Maxillary lateral incisor microdonti... OMIM:300431
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Psoriasis 14, Pustular
Furrowed tongue, Erythema, Geographic tongue OMIM:614204
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Urinary glycosaminoglycan e... ORPHA:505248
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Submucous cleft hard palate, Hypodontia, Glossoptosis, High, narrow palate ORPHA:3201
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, Aplasia cutis congenita, Mi... ORPHA:79402
Orofaciodigital Syndrome V
High palate, Bifid uvula, Lobulated tongue, Hypodontia, Aganglionic megacolon, Hamartoma of tongu... OMIM:174300
Cronkhite-Canada Syndrome
Colon cancer, Hamartomatous polyposis, Furrowed tongue, Malabsorption, Stomach cancer, Intestinal... ORPHA:2930
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Treacher Collins Syndrome 1
Narrow mouth, Cleft soft palate, Preauricular skin tag, Abnormal parotid gland morphology, Cleft ... OMIM:154500
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Glossoptosis, Cleft palate, Microglossia OMIM:254940
Hartnup Disease
Gingivitis, Hypopigmented skin patches, Malabsorption, Glossitis ORPHA:2116
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the mouth, Abnormality of the philtrum, Abnormal... ORPHA:2759
Hereditary Acrokeratotic Poikiloderma
Narrow mouth, Premature loss of primary teeth, Oral leukoplakia, Hypopigmented skin patches, Open... ORPHA:2907
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Down Syndrome
Narrow mouth, Open mouth, Microdontia, Aganglionic megacolon, Thick lower lip vermilion, Anal atr... ORPHA:870
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Enlarged kidney, Splenomegaly, Multiple renal cysts ORPHA:464329
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:200995
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia ORPHA:2221
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Tented upper lip vermilion, Smooth philtrum, Death in infancy, Protru... OMIM:618580
Mcdonough Syndrome
Short philtrum, Furrowed tongue, Dental malocclusion OMIM:248950
Trisomy 8Q
High palate, Non-midline cleft lip, Everted lower lip vermilion, Oral cleft, Abnormal oral frenul... ORPHA:1752
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Smooth tongue, Abnormality of primary teeth, Hypodontia, Erythema, D... OMIM:257980
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Skin ulcer, Glossoptosis, Malabsorption ORPHA:47
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Nephrolithiasis, Ureteral duplication, Hypercalciuria, Spl... ORPHA:116
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Dry skin, Gingival overgrowth, Wide mouth OMIM:618797
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Open mouth, Multiple cafe-au-lait spots, Everted l... ORPHA:570
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Ac... ORPHA:731
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding, Thin skin ORPHA:2457
Marshall-Smith Syndrome
Open mouth, Protruding tongue, Thin skin, Gingival overgrowth ORPHA:561
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Renal malrotation, Macroglossia, Multicystic kidney dysplasia, Nep... ORPHA:500095
Orofaciodigital Syndrome I
Tongue nodules, High palate, Agenesis of permanent teeth, Cleft upper lip, Enamel hypoplasia, Lob... OMIM:311200
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin sequence, Long philtrum, Glossoptosis... ORPHA:1358
Melkersson-Rosenthal Syndrome
Cheilitis, Furrowed tongue, Macroglossia ORPHA:2483
Cowden Syndrome 5
Narrow mouth, High palate, Colonic diverticula, Hamartomatous polyposis, Furrowed tongue, Skin tags OMIM:615108
Catel-Manzke Syndrome
Glossoptosis, High palate, Cleft upper lip, Cleft palate OMIM:616145
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Lobulated tongue, Agenesis of central incis... OMIM:252100
Chand Syndrome
Agenesis of permanent teeth, Dry skin, Commissural lip pit, Agenesis of maxillary incisor, Abnorm... ORPHA:1401
Raine Syndrome
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Natal tooth, Neonatal death, Protrudin... OMIM:259775
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Pierre-Robin sequence, Oligodontia, Agenesis of central incisor, Everted lower lip vermilion, Ten... ORPHA:364577
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Open mouth, Everted lower lip vermilion, Abnormality of the dentition, Protruding to... OMIM:212066
Hereditary Folate Malabsorption
Pallor, Cheilitis, Glossitis ORPHA:90045
Lelis Syndrome
Carious teeth, Hypodontia, Abnormality of the mouth, Furrowed tongue ORPHA:140936
Omphalocele Syndrome, Shprintzen-Goldberg Type
Anal atresia, Thin upper lip vermilion, Downturned corners of mouth, Hypoplasia of the pharynx ORPHA:3164
Cowden Syndrome 6
Narrow mouth, High palate, Colonic diverticula, Hamartomatous polyposis, Furrowed tongue, Skin tags OMIM:615109
Autosomal Recessive Robinow Syndrome
Short philtrum, Ectopic anus, Abnormal palate morphology, Sacral dimple, Long philtrum, Open bite... ORPHA:1507
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Atypical scarring of skin, Milia, Carious teeth, Aplasia cutis congenita, Esophagea... ORPHA:89842
Orofaciodigital Syndrome Type 1
Accessory oral frenulum, High palate, Broad alveolar ridges, Tongue nodules, Dry skin, Open bite,... ORPHA:2750
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Bifid uvula, Death in infancy, Cleft palate ORPHA:1790
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Bilateral cleft lip and palate, Thin upper lip vermilion, Cafe-au... OMIM:618874
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Microdontia, Microglossia, Cleft palate ORPHA:1307
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Bifid uvula, Cleft palate, Macroglossia OMIM:612938
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Narrow palate, Dental crowding ORPHA:313892
Orofaciodigital Syndrome Type 3
Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular dentition, Abnormality of the denti... ORPHA:2752
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Narrow mouth, Hypodontia, Anal atresia, Jejunal at... ORPHA:989
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microglossia ORPHA:1972
Cowden Syndrome 1
Narrow mouth, High palate, Colonic diverticula, Acrokeratosis, Hamartomatous polyposis, Furrowed ... OMIM:158350
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Pierre-Robin sequence, High palate, Submucous cleft soft palate... OMIM:608670
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft lip and palate, Bifid tongue ORPHA:2001
Hypoglossia-Hypodactylia
Narrow mouth, Microglossia, Aglossia OMIM:103300
Kleefstra Syndrome 1
Everted lower lip vermilion, U-Shaped upper lip vermilion, Macroglossia, Natal tooth, Protruding ... OMIM:610253
Angelman Syndrome
Drooling, Widely spaced teeth, Macroglossia, Protruding tongue, Wide mouth OMIM:105830
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Thick vermilion border, Submucous cleft lip, Enlarged kidney, R... OMIM:312870
Pitt-Hopkins-Like Syndrome 2
Protruding tongue, Drooling, Wide mouth OMIM:614325
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth ORPHA:531151
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue ORPHA:2167
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Widely spaced teeth, Wide mouth ORPHA:98795
Shprintzen Omphalocele Syndrome
Anal atresia, Abnormality of the mouth, Hypoplasia of the pharynx, Thin vermilion border OMIM:182210
Angelman Syndrome Due To A Point Mutation
Protruding tongue, Widely spaced teeth, Drooling, Wide mouth ORPHA:411511
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Short philtrum, Macrodontia, Open mouth, High, narrow palate, T... ORPHA:193
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Oral mucosal blisters, Smooth tongue, Enamel hypoplasia, Aplasia cutis congenita, Erythema, Milia... ORPHA:79396
Tarp Syndrome
Tongue nodules, High palate, Glossoptosis, Cleft palate OMIM:311900
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Long penis, Th... ORPHA:508
Agnathia-Otocephaly Complex
Narrow mouth, Microglossia, Cleft palate, Aglossia OMIM:202650
Frontorhiny
Preauricular skin tag, Cleft palate, Dermoid cyst, Bifid tongue ORPHA:391474
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Agenesis of permanent teeth, Sacral dimple, Long philtrum, Cleft lip, Anteri... OMIM:616894
Rabson-Mendenhall Syndrome
High palate, Macroglossia, Furrowed tongue, Dental crowding, Lichenoid skin lesion, Abnormality o... ORPHA:769
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations OMIM:614153
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Protruding tongue, Malabsorption, Macroglossia OMIM:242860
Agel Amyloidosis
Tongue atrophy, Diffuse skin atrophy, Cutis laxa, Xerostomia, Dry skin ORPHA:85448
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Long philtrum, Macroglossia, Dental crowding, Protruding tongue OMIM:141750
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Furrowed tongue, Smooth philtrum, Thin upper lip vermilion, Diastema OMIM:300534
Down Syndrome
Aganglionic megacolon, Anal atresia, Macroglossia, Duodenal stenosis, Protruding tongue OMIM:190685
Ritscher-Schinzel Syndrome 2
Short philtrum, Protruding tongue OMIM:300963
Treacher-Collins Syndrome
Narrow mouth, High palate, Rectovaginal fistula, Cleft upper lip, Open bite, Tracheoesophageal fi... ORPHA:861
Ramos-Arroyo Syndrome
Narrow mouth, Smooth tongue, Long philtrum, Carious teeth, Aganglionic megacolon, Shoulder dimple... ORPHA:1051
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hamartomatous polyposis, Malabsorption, Protein-losing enteropathy, Xerostomia, Glossitis OMIM:175500
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations ORPHA:276198
Cleidocranial Dysplasia
Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary tooth, High, narrow palate, Ab... ORPHA:1452
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Everted lower lip vermilion, Smooth philtrum ORPHA:324410
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Nevus flammeus of the forehead, Everted lower lip vermilion, Tented upper lip ver... ORPHA:464738
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormal tongue morphology, Carious teeth, Abnormality of dental morphology, Cheilitis, Scaling s... ORPHA:158668
Icf Syndrome
Protruding tongue, Malabsorption, Macroglossia ORPHA:2268
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Stomatitis, Glossitis, High palate OMIM:277380
Imerslund-Gräsbeck Syndrome
Pallor, Angular cheilitis, Glossitis ORPHA:35858
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Cowden Syndrome
Colorectal polyposis, High palate, Hypopigmented skin patches, Multiple cafe-au-lait spots, Papul... ORPHA:201
Kinsship Syndrome
Short philtrum, Sacral dimple, Widely spaced teeth, Thick lower lip vermilion, Smooth philtrum, A... OMIM:619297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Preauricular pit, Bifid uvula, Open bite, Abnormality of primar... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Preauricular pit, Bifid uvula, Open bite, Abnormality of primar... ORPHA:352665
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Lobulated tongue, Midline notch of upper alveolar ridge, Hamartoma o... ORPHA:2754
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Preauricular pit, High palate, Bifid uvula, Open mouth, Oligodontia, Macroglossia, Furrowed tongu... ORPHA:453499
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Protruding tongue, Widely spaced teeth, Drooling, Wide mouth ORPHA:98794
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations OMIM:211530
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Long philtrum, Gingival overgrowth OMIM:619179
Congenital Sialidosis Type 2
Protruding tongue, Petechiae, Gingival overgrowth ORPHA:93400
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, High, narrow palate, Macroglossia, Death in childhood, Redundant neck skin, Protrudi... OMIM:214100
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Bifid tongue, Macroglossia, Nevus flammeus, Delayed eruption of permanent teeth, D... OMIM:268310
Hallermann-Streiff Syndrome
Narrow mouth, Dermal atrophy, Supernumerary tooth, Abnormality of the tongue, High, narrow palate... ORPHA:2108
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Cleft palate OMIM:615065
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border ORPHA:1446
Stuve-Wiedemann Syndrome 1
Pursed lips, Thin skin, Abnormal dental enamel morphology, Smooth tongue OMIM:601559
Autosomal Dominant Robinow Syndrome
Short philtrum, Sacral dimple, Long philtrum, Open bite, Oligodontia, Hypodontia, Supernumerary t... ORPHA:3107
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Penetrating foot ulcers, Difficulty in tongue movements ORPHA:99956
Robinow Syndrome, Autosomal Dominant 1
High palate, Long philtrum, Delayed eruption of teeth, Bifid tongue, Macroglossia, Nevus flammeus... OMIM:180700
Pachyonychia Congenita 3
Oral leukoplakia, Chapped lip, Furrowed tongue, Gingivitis OMIM:615726
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Everted lower lip vermilion, Downturned corners of mouth, Macroglossia ORPHA:96147
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Short philtrum, Tracheoesophageal fistula, Oral cleft ORPHA:958
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Anal atresia, Cleft lip, Natal tooth, Cleft palate, Bifid tongue OMIM:616300
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Enlarged kidney, Horseshoe kidney, Hepatomegaly, Cardiomegaly OMIM:306955
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Thick lower lip vermilion, Macroglossia, Widely-spaced maxillary ce... OMIM:301040
Contractures-Developmental Delay-Pierre Robin Syndrome
Glossoptosis, Cleft palate, High, narrow palate ORPHA:436003
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth ORPHA:93399
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Lobulated tongue, Hamartoma of tongue, Natal tooth, Median cleft lip and ... OMIM:269860
Marshall-Smith Syndrome
High palate, Short philtrum, Drooling, Microdontia, Death in childhood, Eclabion, Glossoptosis, I... OMIM:602535
Giant Cell Arteritis
Skin ulcer, Impaired mastication, Glossitis ORPHA:397
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Protruding tongue, Smooth philtrum, Thick vermilion border OMIM:608779
Robinow Syndrome
Broad alveolar ridges, Long philtrum, Hypodontia, Dental crowding, Marked delay in eruption of pe... ORPHA:97360
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Fontaine Progeroid Syndrome
Narrow mouth, Dermal translucency, Long philtrum, Oligodontia, Microdontia, Everted lower lip ver... OMIM:612289
Autosomal Dominant Cerebellar Ataxia
Tongue atrophy, Erythema, Tongue fasciculations ORPHA:99
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Microglossia ORPHA:990
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Cleft palate, Glossitis ORPHA:79284
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Otopalatodigital Syndrome Type 2
Narrow mouth, Pierre-Robin sequence, Oligodontia, Glossoptosis, Anodontia, Cleft palate ORPHA:90652
Angelman Syndrome
Protruding tongue, Widely spaced teeth, Drooling, Wide mouth ORPHA:72
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Drooling OMIM:619580
Cerebrocostomandibular Syndrome
Death in infancy, Short hard palate, Glossoptosis, Cleft palate ORPHA:1393
Tarp Syndrome
Pierre-Robin sequence, Tongue nodules, Abnormal duodenum morphology, Glossoptosis, Alveolar ridge... ORPHA:2886
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, High palate, Multiple cafe-au-lait spots, Cleft lip, Furrowed tongue, Smoo... OMIM:616975
Opitz Gbbb Syndrome
Preauricular pit, High palate, Ectopic anus, Long philtrum, Hypodontia, Tracheoesophageal fistula... ORPHA:2745
Pelvis-Shoulder Dysplasia
Microglossia, Cleft palate, Thick anterior alveolar ridges ORPHA:2839
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Lenz-Majewski Hyperostotic Dwarfism
Cutis laxa, Microglossia, Thin skin, Abnormality of the dentition, Anteriorly placed anus OMIM:151050
Joubert Syndrome 1
Triangular-shaped open mouth, Protruding tongue, Macroglossia OMIM:213300
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Cerebrocostomandibular Syndrome
High palate, Long philtrum, Anal stenosis, Cleft soft palate, Short hard palate, Glossoptosis, Ab... OMIM:117650
Pallister-Hall Syndrome
Cleft upper lip, Anal atresia, Microglossia, Natal tooth, Neonatal death, Anteriorly placed anus,... OMIM:146510
Smith-Lemli-Opitz Syndrome
Long philtrum, Supernumerary tooth, Aganglionic megacolon, Bifid tongue, Microglossia, Abnormalit... ORPHA:818
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Aganglionic megacolon, Ganglioneuromatosis, Pallor, Thick vermilion b... ORPHA:653
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Open mouth, Protruding tongue, Impaired mastication, Macroglossia ORPHA:258
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Tongue fasciculations, Drooling, Difficulty in tongue movements ORPHA:99949
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Furrowed tongue OMIM:148210
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, High, narrow palate, Pyloric stenosis, Smooth philtrum, Thin upper lip vermilion, A... ORPHA:261330
Cousin Syndrome
Microglossia, Alveolar ridge overgrowth, Cleft palate OMIM:260660
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short upper lip, High palate, Drooling, Open mouth, U-Shaped upper lip vermilion, Tented upper li... OMIM:309580
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Narrow mouth, Oral mucosal blisters, Carious teeth, Aplasia cutis congenita, Anal fissure, Erosio... ORPHA:79408
Hutchinson-Gilford Progeria Syndrome
Narrow mouth, High palate, Impacted tooth, Thin vermilion border, Delayed eruption of teeth, Derm... ORPHA:740
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Degcags Syndrome
Hiatus hernia, High palate, Sacral dimple, Long philtrum, Jejunal atresia, Wide mouth, Intestinal... OMIM:619488
Stickler Syndrome
Cleft upper lip, Long philtrum, Open bite, Macroglossia, Short hard palate, Abnormal dental ename... ORPHA:828
Glucagonoma
Stomatitis, Necrolytic migratory erythema, Intestinal obstruction, Glossitis, Steatorrhea ORPHA:97280
Orofaciodigital Syndrome Xiv
Lobulated tongue, Supernumerary tooth, Bifid tongue, Hamartoma of tongue, Cleft lip, Natal tooth,... OMIM:615948
Distal Monosomy 12Q
Long philtrum, Supernumerary tooth, High, narrow palate, Esophageal atresia, Microglossia, Pylori... ORPHA:96149
Distal Monosomy 15Q
Short philtrum, Thin upper lip vermilion, Aplasia cutis congenita over the scalp vertex, Abnormal... ORPHA:1596
Meckel Syndrome, Type 1
Cleft upper lip, Intestinal malrotation, Lobulated tongue, Anal atresia, Natal tooth, Cleft palat... OMIM:249000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Smooth philtrum, Glossitis ORPHA:79282
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Microglossia, Cleft palate, Median cleft lip OMIM:263520
Yunis-Varon Syndrome
Short upper lip, Premature loss of primary teeth, Short philtrum, Abnormality of dental structure... ORPHA:3472
Fraser Syndrome
High palate, Ectopic anus, Cleft upper lip, Anal stenosis, Anal atresia, Dental crowding, Oral cl... ORPHA:2052
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Lobulated tongue, Supernumerary tooth, Bifid tongue, Hamartoma of tongue... ORPHA:434179
1Q21.1 Microdeletion Syndrome
High palate, Ankyloglossia, Long philtrum ORPHA:250989
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Long philtrum, Macroglossia, Glossoptosis, Thin upper lip vermilion, Downturned corn... ORPHA:444077
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Open bite, Intestinal malrotation, Open mouth, T... ORPHA:2729
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Cleft palate, Ankyloglossia ORPHA:488642
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Long philtrum ORPHA:50945
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, Short philtrum, Drooling, High, narrow palate, Short uvula, Melanocytic nevus, Smoot... OMIM:619475
Plague
Localized skin lesion, Inflammation of the large intestine, Enterocolitis, Chapped lip, Skin ulce... ORPHA:707
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Severe Generalized Junctional Epidermolysis Bullosa
Renal cyst, Urinary retention, Abnormal oral mucosa morphology, Dysuria, Hydronephrosis, Enamel h... ORPHA:79404
Microsporidiosis
Skin nodule, Glossitis ORPHA:2552
Smith-Lemli-Opitz Syndrome
Broad alveolar ridges, Long philtrum, Intestinal malrotation, Aganglionic megacolon, Microglossia... OMIM:270400
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cleft palate ORPHA:564
Carney Complex
Tongue nodules, Nodular changes affecting the eyelids, Esophageal neoplasm, Abnormal hard palate ... ORPHA:1359
Kawasaki Disease
Cheilitis, Palmoplantar erythema, Glossitis ORPHA:2331
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Sacral dimple, Smooth tongue ORPHA:3206
Viss Syndrome
Submucous cleft soft palate, High palate, Bifid uvula, Broad uvula, Cleft soft palate, Intestinal... OMIM:619472
Bilateral Perisylvian Polymicrogyria
Protruding tongue, Drooling ORPHA:98889
Neuroocular Syndrome
Sacral dimple, Widely spaced teeth, Short uvula, Submucous cleft hard palate, Increased overbite,... OMIM:619539
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Cleft upper lip, Long philtrum, Esophageal atresia, Anal atresia, Bifid tongue ORPHA:93271
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia OMIM:619525
Pallister-Hall Syndrome
Accessory oral frenulum, Bifid uvula, Anal atresia, Cleft lip, Natal tooth, Microglossia, Cleft p... ORPHA:672
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Microphthalmia, Syndromic 6
Microglossia, High palate, Bifid uvula, Cleft palate OMIM:607932

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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