Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the tongue (HP:0000157)help
Parent Node:
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Abnormal tongue morphology (HP:0030809)help
..Starting node
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Protruding tongue (HP:0010808)help
Term ID: 10808
Name: Protruding tongue
Synonym: Lingual prolapse; Lingual prominence; Lingual protrusion; Prolapse of tongue; Prominent tongue; Protruding tongue; Tongue protrusion; Tongue sticking out of mouth
Definition: Tongue extending beyond the alveolar ridges or teeth at rest.
Comments:
Reference: HP:0010808
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal hyoglossus muscle morphology (HP:3000051) help
..expandAbnormal lingual artery morphology (HP:3000074) help
..expandAbnormality of lingual tonsil (HP:3000076) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandAnkyloglossia (HP:0010296) help
..expandAplasia/Hypoplasia of the tongue (HP:0010295) help
..expandBifid tongue (HP:0010297) help
..expandDuplicated tongue (HP:0040294) help
..expandFurrowed tongue (HP:0000221) help
..expandGeographic tongue (HP:0025252) help
..expandGlossitis (HP:0000206) help
..expandGlossoptosis (HP:0000162) help
..expandLobulated tongue (HP:0000180) help
..expandMacroglossia (HP:0000158) help
..expandPosteriorly placed tongue (HP:0009087) help
..expandSmooth tongue (HP:0010298) help
..expandStiff tongue (HP:0031373) help
..expandStrawberry tongue (HP:0031042) help
..expandTongue atrophy (HP:0012473) help
..expandTongue nodules (HP:0000199) help
..expandTongue telangiectasia (HP:0000227) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010808HP:0010808Protruding tongue0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0010808HP:0010808Protruding tongue0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0010808HP:0010808Protruding tongue0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0010808HP:0010808Protruding tongue0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0010808HP:0010808Protruding tongue0CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040283 - Occasional4
HP:0010808HP:0010808Protruding tongue0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0010808HP:0010808Protruding tongue0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0010808HP:0010808Protruding tongue0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0010808HP:0010808Protruding tongue0DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040283 - Occasional79
HP:0010808HP:0010808Protruding tongue0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0010808HP:0010808Protruding tongue0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0010808HP:0010808Protruding tongue0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0010808HP:0010808Protruding tongue0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0010808HP:0010808Protruding tongue0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0010808HP:0010808Protruding tongue0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0010808HP:0010808Protruding tongue0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0010808HP:0010808Protruding tongue0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0010808HP:0010808Protruding tongue0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0010808HP:0010808Protruding tongue0HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040283 - Occasional6
HP:0010808HP:0010808Protruding tongue0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0010808HP:0010808Protruding tongue0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0010808HP:0010808Protruding tongue0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0010808HP:0010808Protruding tongue0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0010808HP:0010808Protruding tongue0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0010808HP:0010808Protruding tongue0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040284 - Very rare43
HP:0010808HP:0010808Protruding tongue0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0010808HP:0010808Protruding tongue0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040282 - Frequent40
HP:0010808HP:0010808Protruding tongue0NRXN1 CL E G H93788008OMIM:614325Pitt-Hopkins-Like syndrome 2.470
HP:0010808HP:0010808Protruding tongue0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0010808HP:0010808Protruding tongue0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0010808HP:0010808Protruding tongue0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0010808HP:0010808Protruding tongue0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0010808HP:0010808Protruding tongue0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040282 - Frequent58
HP:0010808HP:0010808Protruding tongue0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0010808HP:0010808Protruding tongue0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0010808HP:0010808Protruding tongue0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0010808HP:0010808Protruding tongue0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0010808HP:0010808Protruding tongue0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0010808HP:0010808Protruding tongue0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0010808HP:0010808Protruding tongue0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0010808HP:0010808Protruding tongue0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0010808HP:0010808Protruding tongue0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0010808HP:0010808Protruding tongue0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0010808HP:0010808Protruding tongue0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0010808HP:0010808Protruding tongue0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0010808HP:0010808Protruding tongue0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0010808HP:0010808Protruding tongue0ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040283 - Occasional9
HP:0010808HP:0010808Protruding tongue0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (41) :ADGRG1 ATRX CCDC22 CDCA7 CLIC2 COG7 CSNK2B DNMT3B EHMT1 FAM20C FBXO28 FTO GATA1 GLB1 GRIK2 HELLS INPP5E KIF7 LAMA2 LMNB1 MGAT2 NEU1 NFIX NRXN1 OCA2 PEX1 PI4KA PIGB PTH1R RALGAPA1 SET SLC25A24 SLC35C1 SNRPN SRPX2 TAF1 TRIP11 UBE3A VPS13A ZBTB24 ZNF699

Diseases (41) :ORPHA:98889 OMIM:301040 OMIM:309580 OMIM:300963 ORPHA:2268 ORPHA:324410 OMIM:608779 OMIM:618732 OMIM:242860 OMIM:610253 ORPHA:96147 OMIM:259775 OMIM:619777 OMIM:612938 OMIM:190685 OMIM:230600 OMIM:619580 OMIM:213300 OMIM:200990 ORPHA:258 OMIM:619179 OMIM:212066 ORPHA:93400 ORPHA:93399 ORPHA:561 OMIM:614325 ORPHA:98794 OMIM:214100 OMIM:618580 ORPHA:50945 OMIM:618797 OMIM:618106 OMIM:612289 ORPHA:99843 OMIM:105830 ORPHA:53351 OMIM:200600 ORPHA:411511 ORPHA:98795 ORPHA:2388 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.