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Gene: Golgb1 MGI:1099447

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Gene Summary

Name:
golgi autoantigen, golgin subfamily b, macrogolgin 1
Synonyms:
C130074L01Rik,  Giantin,  Gm6840,  6330407A06Rik,  F730017E11Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Golgb1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Golgb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Torus Palatinus And Torus Mandibularis
Torus palatinus OMIM:189700
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth OMIM:618732
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Cleft Palate, Isolated
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Macrosomia With Microphthalmia, Lethal
Median cleft palate OMIM:248110
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion ORPHA:2016
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Nemaline Myopathy 9
High palate, Cleft palate OMIM:615731
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... OMIM:226440
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Sprengel Deformity
Cleft palate ORPHA:3181
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Parc Syndrome
Cleft palate OMIM:600331
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Hartnup Disorder
Glossitis OMIM:234500
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Mandibular ... OMIM:614669
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Protruding tongue, Thick vermilion border, Submucous cl... OMIM:618106
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Bifid uvula, Protruding tongue OMIM:612938
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Cleft palate ORPHA:2015
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... ORPHA:353253
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Abnormality of the dentition, Microdonti... ORPHA:870
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate OMIM:183700
Mesomelic Limb Shortening And Bowing
Cleft palate OMIM:249710
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate OMIM:201550
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Macroglossia
Macroglossia OMIM:153630
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Cleft palate OMIM:241850
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Open mouth, Hypoplasia o... OMIM:200990
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Cleft palate, Non-midline cleft lip ORPHA:1484
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98795
Thomas Syndrome
Cleft upper lip, Cleft palate ORPHA:3316
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Ritscher-Schinzel Syndrome 2
Short philtrum, Protruding tongue OMIM:300963
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Macroglossia OMIM:242860
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Everted lower lip vermilion, Short philtrum, Cleft lip, Tented upper lip vermilion OMIM:616898
X-Linked Intellectual Disability, Abidi Type
Cleft palate, Non-midline cleft lip ORPHA:85273
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Developmental And Epileptic Encephalopathy 80
High palate, Wide mouth, Long philtrum, Protruding tongue, Tented upper lip vermilion, Smooth phi... OMIM:618580
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Icf Syndrome
Malabsorption, Protruding tongue, Macroglossia ORPHA:2268
Diprosopus
Cleft palate, Non-midline cleft lip ORPHA:1681
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Everted lower lip vermi... OMIM:610253
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Microdontia, Abnormality of the philtrum OMIM:225000
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Macroglossia, Long philtrum, Protruding tongue, Dental crowding OMIM:141750
Congenital Disorder Of Glycosylation, Type Iia
Wide mouth, Gingival overgrowth, Everted lower lip vermilion, Thin vermilion border, Abnormality ... OMIM:212066
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:411511
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Smooth philtrum, Everted lower lip vermilion ORPHA:324410
Marshall-Smith Syndrome
Gingival overgrowth, Protruding tongue, Open mouth ORPHA:561
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Angelman Syndrome
Widely spaced teeth, Wide mouth, Protruding tongue, Macroglossia OMIM:105830
Ring Chromosome 22 Syndrome
Thick vermilion border, Protruding tongue ORPHA:1446
Parietal Foramina 1
Cleft upper lip, Cleft palate OMIM:168500
Orofaciodigital Syndrome Xi
Cleft palate OMIM:612913
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Anterior open-bite malocclusion, M... OMIM:602483
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Microphthalmia, Syndromic 8
Cleft upper lip, Widely-spaced maxillary central incisors, Cleft palate, Oral cleft OMIM:601349
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short philtrum, Bifid tongue, Short lingual frenulum, Abnormal pala... ORPHA:3241
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Protruding tongue, Narrow mouth OMIM:230600
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93399
Bamforth-Lazarus Syndrome
Cleft palate ORPHA:1226
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Non-midline cleft lip ORPHA:2476
Stickler Syndrome Type 2
Cleft palate ORPHA:90654
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98794
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Microdontia, Enamel hyp... OMIM:259775
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Oral cleft, Cleft palate, Short mandibular rami OMIM:141400
Lipoid Proteinosis
High palate, Abnormal oral mucosa morphology, Tongue nodules, Microglossia, Thick lower lip vermi... ORPHA:530
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology ORPHA:97230
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bifid uvula, Downturned corners of mouth, Esophageal atresia, Cleft soft... OMIM:618779
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Protruding tongue, Macroglossia, Everted lower lip vermilion ORPHA:96147
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Long philtrum, Whistling appearance, Microglossia OMIM:277720
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Glossoptosis, High, narrow palate, Hypodontia, Submucous cleft hard palate ORPHA:3201
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Lymphatic Malformation 5
Cleft palate OMIM:153200
Treacher Collins Syndrome 3
Cleft palate OMIM:248390
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Cleft palate OMIM:246560
Treacher Collins Syndrome 2
Cleft palate OMIM:613717
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate OMIM:614880
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Macroglossia, Diastema, Protruding tongue, Thick vermilion border, ... OMIM:301040
Congenital Disorder Of Glycosylation, Type Iie
Thick vermilion border, Narrow mouth, Protruding tongue, Smooth philtrum OMIM:608779
Plummer-Vinson Syndrome
Narrow mouth, Cheilitis, Esophageal web, Intra-oral hyperpigmentation, Glossitis, Tongue atrophy ORPHA:54028
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Tooth malposition, Everted lower lip vermilion, Short philtrum, Furrowed tongue ORPHA:1387
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... ORPHA:137888
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Lobulated tongue, Hamartoma of tongue, Tongue... OMIM:258860
Coloboma Of Macula And Skeletal Anomalies
Cleft palate OMIM:216800
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Cleft palate ORPHA:1135
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Cleft palate OMIM:602196
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:614838
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Cleft palate, Tongue nodules OMIM:277170
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Cleft palate ORPHA:2010
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Microdontia, Abnormality of the philtrum OMIM:225060
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Protruding tongue, High, narrow palate, Macroglossia OMIM:214100
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Leukocyte Adhesion Deficiency Type Ii
Premature loss of teeth, Gingival overgrowth, Narrow palate, Long upper lip, Severe periodontitis... ORPHA:99843
Genitopalatocardiac Syndrome
Cleft upper lip, Cleft palate OMIM:231060
Pallister-Hall-Like Syndrome
Median cleft lip, Microglossia, Cleft palate OMIM:241800
Angelman Syndrome
Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:72
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Wide mouth, Cleft palate OMIM:619981
Developmental And Epileptic Encephalopathy 100
High palate, Gingival overgrowth, Microdontia, Enamel hypoplasia, Protruding tongue, Tented upper... OMIM:619777
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... OMIM:174300
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Hypoglossia-Hypodactylia
Microglossia, Narrow mouth, Aglossia OMIM:103300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Joubert Syndrome 1
Triangular-shaped open mouth, Protruding tongue, Macroglossia OMIM:213300
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Dental crowding, Delayed eruption of pri... OMIM:616367
Trisomy 8Q
High palate, Cleft palate, Everted lower lip vermilion, Bifid tongue, Oral cleft, Abnormal oral f... ORPHA:1752
Pai Syndrome
Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate ORPHA:1993
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, Solitary median maxillary central incisor, High palate, Cleft palate OMIM:602418
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Birk-Barel Syndrome
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion OMIM:612292
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate ORPHA:2001
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate ORPHA:957
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Macroglossia, Open mouth ORPHA:258
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Furrowed tongue ORPHA:2483
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Cleft palate OMIM:603543
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Long philtrum, Natal tooth ORPHA:50945
Isotretinoin Embryopathy-Like Syndrome
Cleft palate OMIM:243440
Holzgreve Syndrome
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Hypomandibular Faciocranial Dysostosis
Aglossia, Pursed lips OMIM:241310
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia ORPHA:2221
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Wide mouth, U-Shaped upper lip vermilion, Macroglossia, Hypoplastic philtrum, Tented... OMIM:309580
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Catel-Manzke Syndrome
High palate, Glossoptosis, Cleft palate, Cleft upper lip OMIM:616145
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy OMIM:614678
Agnathia-Otocephaly Complex
Aglossia, Microglossia, Narrow mouth, Cleft palate OMIM:202650
Schisis Association
Anal atresia, Tracheoesophageal fistula, Unilateral cleft lip, Cleft palate ORPHA:63862
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... ORPHA:2752
Seckel Syndrome 2
Microglossia, Microdontia OMIM:606744
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... ORPHA:1358
Orofaciodigital Syndrome X
Cleft palate OMIM:165590
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Bifid tongue, Lo... OMIM:252100
Cronkhite-Canada Syndrome
Malabsorption, Stomach cancer, Furrowed tongue, Intestinal polyposis, Colon cancer, Hypogeusia, H... ORPHA:2930
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Cleft palate, Microdontia, Microglossia ORPHA:1307
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Fontaine Progeroid Syndrome
Narrow mouth, High, narrow palate, Everted lower lip vermilion, Oligodontia, Long philtrum, Micro... OMIM:612289
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Smooth philtrum, Cleft soft palate OMIM:614526
Arthrogryposis, Distal, Type 5D
Furrowed tongue, Cleft palate OMIM:615065
Down Syndrome
Anal atresia, Macroglossia, Protruding tongue, Duodenal stenosis, Aganglionic megacolon OMIM:190685
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate OMIM:611561
Faciocardiorenal Syndrome
Narrow mouth, Smooth philtrum, Hypodontia, Cleft palate ORPHA:1973
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Exaggerated median tongue furrow ORPHA:313892
Mcdonough Syndrome
Dental malocclusion, Short philtrum, Furrowed tongue OMIM:248950
Degcags Syndrome
High palate, Wide mouth, Hiatus hernia, Intestinal atresia, Long philtrum, Pyloric stenosis, Prot... OMIM:619488
Psoriasis 14, Pustular
Furrowed tongue, Geographic tongue OMIM:614204
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue ORPHA:2759
Oculopalatocerebral Syndrome
Cleft palate OMIM:257910
Pachyonychia Congenita 3
Gingivitis, Oral leukoplakia, Chapped lip, Furrowed tongue OMIM:615726
Chand Syndrome
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Commissur... ORPHA:1401
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Bifid uvula, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:1790
Hypoglossia-Hypodactyly Syndrome
High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Hypodont... ORPHA:989
Mulibrey Nanism
Dental malocclusion, Hypodontia, Enamel hypoplasia, Dental crowding, Microglossia OMIM:253250
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Bazex Syndrome
Furrowed tongue OMIM:301845
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Abnormality... OMIM:616331
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Lelis Syndrome
Furrowed tongue, Hypodontia, Carious teeth ORPHA:140936
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth ORPHA:531151
Tarp Syndrome
High palate, Tongue nodules, Cleft palate, Glossoptosis OMIM:311900
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Bilateral cleft lip and palate, Ankyloglossia, Thin upper lip ver... OMIM:618874
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy OMIM:614153
Hartnup Disease
Gingivitis, Glossitis, Malabsorption ORPHA:2116
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligodont... ORPHA:364577
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Glossoptosis, Carious teeth ORPHA:93346
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding ORPHA:2457
Methylmalonic Aciduria And Homocystinuria, Cblf Type
High palate, Glossitis, Thin upper lip vermilion, Stomatitis OMIM:277380
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligodontia, Long philtru... OMIM:608670
Orofaciodigital Syndrome I
High palate, Cleft upper lip, Alveolar ridge overgrowth, Supernumerary tooth, Cleft palate, Agene... OMIM:311200
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Bifid uvula, Cleft palate ORPHA:1427
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy ORPHA:276198
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Glossitis, Protein-losing enteropathy, Hamartomatous polyposis OMIM:175500
Cowden Syndrome 5
High palate, Narrow mouth, Furrowed tongue, Colonic diverticula, Hamartomatous polyposis OMIM:615108
Moebius Syndrome
High palate, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Cleft palate, Everted lower lip ve... ORPHA:570
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnormality of t... ORPHA:1452
Contractures-Developmental Delay-Pierre Robin Syndrome
Glossoptosis, High, narrow palate, Cleft palate ORPHA:436003
Cowden Syndrome 6
High palate, Narrow mouth, Furrowed tongue, Colonic diverticula, Hamartomatous polyposis OMIM:615109
Orofaciodigital Syndrome Type 6
High palate, Cleft palate, Lobulated tongue, Hamartoma of tongue, Midline notch of upper alveolar... ORPHA:2754
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cleft palate, Bifid tongue, Lobulated tongue, Cleft lip, Natal tooth OMIM:616300
Acrodermatitis Enteropathica
Abnormality of the tongue, Malabsorption, Cheilitis, Glossitis, Furrowed tongue ORPHA:37
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy OMIM:211530
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum OMIM:300534
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Anal atresia, Cleft palate, Intestinal malrotation, Bifid tongue, Hamartoma of t... OMIM:613091
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Narrow mouth ORPHA:990
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Agenesis of permanent t... OMIM:616894
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Orofaciodigital Syndrome Type 1
High palate, Abnormal dental enamel morphology, Accessory oral frenulum, Hypodontia, Cleft palate... ORPHA:2750
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Short philtrum, Oral cleft ORPHA:958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Cleft palate, Macroglossia, Oligodontia, Bifid uvula, Downturned corners of mouth, F... ORPHA:453499
X-Linked Agammaglobulinemia
Glossoptosis, Malabsorption ORPHA:47
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Cohen Syndrome
Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the tongue, High, narrow palate, Abnor... ORPHA:193
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 29
High palate, Dental crowding, Narrow mouth, Narrow palate, Long philtrum, Open mouth, Thick vermi... OMIM:616078
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis ORPHA:2031
Cowden Syndrome 1
High palate, Narrow mouth, Furrowed tongue, Colonic diverticula, Hamartomatous polyposis OMIM:158350
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
Autosomal Recessive Robinow Syndrome
Ectopic anus, Wide mouth, Gingival overgrowth, Supernumerary tooth, Hypodontia, Open bite, Abnorm... ORPHA:1507
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Carey-Fineman-Ziter Syndrome 1
High palate, Cleft palate, Glossoptosis, Pierre-Robin sequence, Microglossia OMIM:254940
Cerebrocostomandibular Syndrome
High palate, Glossoptosis, Abnormality of the dentition, Short hard palate, Long philtrum, Anal s... OMIM:117650
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Hypodontia, Agenesis of permanent teeth, Smooth tongue, Abnormality ... OMIM:257980
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Cleft palate, Everted lower lip vermilion, Short philtrum, Furrowed tongue, ... ORPHA:464738
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Anoperineal fistula, Abnormality of the dentition, Carious teeth, Abnormal tongue morp... ORPHA:158668
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Cleft palate ORPHA:1393
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia, Microdontia OMIM:148210
Popliteal Pterygium Syndrome
Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit, Fibrous syngnathia OMIM:119500
Hereditary Acrokeratotic Poikiloderma
Narrow mouth, Open bite, Abnormality of the dentition, Xerostomia, Premature loss of primary teet... ORPHA:2907
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Cleft palate ORPHA:2839
Robinow Syndrome, Autosomal Dominant 1
High palate, Gingival overgrowth, Narrow palate, Persistence of primary teeth, Triangular mouth, ... OMIM:180700
Rabson-Mendenhall Syndrome
High palate, Gingival overgrowth, Macroglossia, Abnormality of the dentition, Advanced eruption o... ORPHA:769
Otopalatodigital Syndrome Type 2
Anodontia, Narrow mouth, Cleft palate, Glossoptosis, Oligodontia, Pierre-Robin sequence ORPHA:90652
Ramos-Arroyo Syndrome
Narrow mouth, Xerostomia, Long philtrum, Carious teeth, Smooth tongue, Aganglionic megacolon ORPHA:1051
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Tarp Syndrome
Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodul... ORPHA:2886
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Long philtrum, Cleft soft palate ORPHA:2756
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Supernumerary tooth, High, narrow palate, Glossoptosis, ... ORPHA:2108
Robinow Syndrome
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... ORPHA:97360
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Branchial fistula, Pyloric stenosis, Ankylogloss... ORPHA:261330
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Smooth philtrum, Cleft soft palate ORPHA:293725
Cousin Syndrome
Alveolar ridge overgrowth, Microglossia, Cleft palate OMIM:260660
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Delayed eruption of teeth, Bifid uvula, Cleft hard palate, Dental crowding, Thin up... OMIM:300990
Loeys-Dietz Syndrome 5
High palate, Hiatus hernia, Cleft palate, Eosinophilic infiltration of the esophagus, Bifid uvula... OMIM:615582
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Submucous cleft soft palate, Bifid uvula, Cleft lip, Cleft hard palate ORPHA:69085
Autosomal Dominant Robinow Syndrome
Anodontia, Gingival overgrowth, Supernumerary tooth, High, narrow palate, Hypodontia, Open bite, ... ORPHA:3107
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Cleft palate, Bifid tongue, Lobulated tongue, Hamartoma of tongue, Aplasia o... OMIM:615948
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy ORPHA:99956
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Gingival overgrowth, Triangular mouth, Macroglossia, Bifid tongue, Long philtrum, Ten... OMIM:268310
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Intestinal malrotation, Hamartoma of tongue, Median cleft lip, Microglossia OMIM:263520
Kinsship Syndrome
Wide mouth, Gingival overgrowth, Short philtrum, Downturned corners of mouth, Widely spaced teeth... OMIM:619297
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Lobulated tongue, Hamartoma of tongue, Median cleft lip and palate, Natal... OMIM:269860
Treacher Collins Syndrome 1
Wide mouth, Narrow mouth, Cleft palate, Abnormal parotid gland morphology, Cleft soft palate OMIM:154500
Opitz Gbbb Syndrome
High palate, Anal atresia, Ectopic anus, Hypodontia, Cleft palate, Tracheoesophageal fistula, Lon... ORPHA:2745
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Supernumerary tooth, Cleft palate, Bifid tongue, Lobulated tongue, Hamar... ORPHA:434179
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy ORPHA:101085
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, High, narrow palate, Cleft palate, Eclabion, Short philtrum, Microdontia, Downturned ... OMIM:619950
Agel Amyloidosis
Xerostomia, Tongue atrophy ORPHA:85448
Autosomal Dominant Cerebellar Ataxia
Tongue fasciculations, Tongue atrophy ORPHA:99
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Abnormal esophagus morphology, Carious teeth, Esophageal stricture, Esophageal sten... ORPHA:89842
Stickler Syndrome
Cleft upper lip, Tooth agenesis, Cleft palate, Open bite, Glossoptosis, Macroglossia, Short hard ... ORPHA:828
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula OMIM:601374
Smith-Lemli-Opitz Syndrome
Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary tooth, Cleft palate, Bifid tongue,... ORPHA:818
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Ankyloglossia, Cleft palate ORPHA:488642
1Q21.1 Microdeletion Syndrome
High palate, Ankyloglossia, Long philtrum ORPHA:250989
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Duodenal atresia, Furrowed tongue, Cleft lip, Broad alveolar ridges, Smooth philtrum OMIM:616975
Giant Cell Arteritis
Glossitis ORPHA:397
Marshall-Smith Syndrome
High palate, Gingival overgrowth, Short mandibular rami, Glossoptosis, Eclabion, Short philtrum, ... OMIM:602535
Pallister-Hall Syndrome
Cleft upper lip, Anal atresia, Cleft palate, Anteriorly placed anus, Natal tooth, Microglossia OMIM:146510
Stuve-Wiedemann Syndrome 1
Thin vermilion border, Smooth tongue, Pursed lips, Carious teeth OMIM:601559
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters ORPHA:79396
Meckel Syndrome, Type 1
Cleft upper lip, Wide mouth, Anal atresia, Cleft palate, Intestinal malrotation, Lobulated tongue... OMIM:249000
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Distal Monosomy 12Q
Duodenal atresia, Supernumerary tooth, High, narrow palate, Long philtrum, Pyloric stenosis, Medi... ORPHA:96149
Meckel Syndrome
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:564
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Aganglionic megacolon, Thick vermilion border, Ganglioneuromatosis ORPHA:653
Cowden Syndrome
High palate, Macroglossia, Furrowed tongue, Colorectal polyposis, Hamartomatous polyposis ORPHA:201
Distal Monosomy 15Q
Cleft palate, Abnormality of the dentition, Short philtrum, Bifid tongue, Thin upper lip vermilion ORPHA:1596
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Anteriorly placed anus OMIM:151050
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
Fraser Syndrome
High palate, Anal atresia, Ectopic anus, Dental malocclusion, Cleft upper lip, Bifid tongue, Oral... ORPHA:2052
Glucagonoma
Stomatitis, Glossitis, Intestinal obstruction, Steatorrhea ORPHA:97280
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Okamoto Syndrome
Cleft palate, Open bite, Intestinal malrotation, Downturned corners of mouth, Tented upper lip ve... ORPHA:2729
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Smooth philtrum, Cleft soft palate, Intestinal malrotation OMIM:619321
Yunis-Varon Syndrome
High, narrow palate, Glossoptosis, Thin vermilion border, Short philtrum, Premature loss of prima... ORPHA:3472
Smith-Lemli-Opitz Syndrome
Cleft palate, Intestinal malrotation, Broad alveolar ridges, Long philtrum, Bifid uvula, Pyloric ... OMIM:270400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High palate, High, narrow palate, Short uvula, Short philtrum, Broad philtrum, Thick vermilion bo... OMIM:619475
Neuroocular Syndrome
Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, Increased overbit... OMIM:619539
Viss Syndrome
High palate, Chronic gastritis, High, narrow palate, Macroglossia, Intestinal malrotation, Bifid ... OMIM:619472
Hutchinson-Gilford Progeria Syndrome
High palate, Narrow mouth, Persistence of primary teeth, Hypodontia, Thin vermilion border, Impac... ORPHA:740
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Narrow mouth, Oral mucosal blisters, Carious teeth, Esophageal ulceration, Erosion of oral mucosa... ORPHA:79408
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue ORPHA:3206
Microsporidiosis
Glossitis ORPHA:2552
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Short philtrum, Widely spaced teeth, Ankyloglossia, Thin upper lip vermilion, Smooth ... OMIM:619841
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Anal atresia, Dental malocclusion, Gingival overgrowth, Narrow palate, Cleft palate, ... OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Anal atresia, Ectopic anus, Bifid tongue, Long philtrum, Esophageal atresia ORPHA:93271
Microphthalmia, Syndromic 6
High palate, Microglossia, Bifid uvula, Cleft palate OMIM:607932
Pallister-Hall Syndrome
Anal atresia, Accessory oral frenulum, Cleft palate, Bifid uvula, Cleft lip, Natal tooth, Microgl... ORPHA:672
Plague
Chapped lip, Glossitis, Enterocolitis, Inflammation of the large intestine ORPHA:707
Congenital Disorder Of Glycosylation, Type Iiw
Ankyloglossia, Supernumerary tooth OMIM:619525
Carney Complex
Neoplasm of the rectum, Esophageal neoplasm, Abnormal hard palate morphology, Tongue nodules, Neo... ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Golgb1

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 Golgb1.

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

Title Journal IMPC Allele PubMed ID
Golgb1 regulates protein glycosylation and is crucial for mammalian palate development. Development (Cambridge, England) (May 2016) Golgb1tm1a(EUCOMM)Hmgu PMC4958322

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MGI Allele Allele Type Produced
Golgb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Golgb1tm43528(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Golgb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Golgb1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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