Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
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Abnormality of dental morphology (HP:0006482)help
..Starting node
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Macrodontia (HP:0001572)help
Term ID: 1572
Name: Macrodontia
Synonym: Hyperplasia of tooth; Hypertrophy of tooth; Increased size of tooth; Increased width of tooth; Large tooth; Megalodontia; Tooth mass excess
Definition: Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.
Comments:
Reference: HP:0001572
Genes and Diseases:
 
       Child Nodes:
........expandIncisor macrodontia (HP:0011081) help
................... HP:0000675 Macrodontia of permanent maxillary central incisor

 Sister Nodes: 
..expandAbnormal dental root morphology (HP:0006486) help
..expandAbnormal incisor morphology (HP:0011063) help
..expandAbnormal molar morphology (HP:0011070) help
..expandAbnormal premolar morphology (HP:0011080) help
..expandConical tooth (HP:0000698) help
..expandDouble tooth (HP:0011089) help
..expandMicrodontia (HP:0000691) 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:0001572HP:0001572Macrodontia0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001572HP:0001572Macrodontia0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0001572HP:0001572Macrodontia0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0001572HP:0001572Macrodontia0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0001572HP:0001572Macrodontia0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0001572HP:0001572Macrodontia0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0001572HP:0001572Macrodontia0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0001572HP:0001572Macrodontia0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0001572HP:0001572Macrodontia0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0001572HP:0001572Macrodontia0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0001572HP:0001572Macrodontia0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0001572HP:0001572Macrodontia0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0001572HP:0001572Macrodontia0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0001572HP:0001572Macrodontia0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0001572HP:0001572Macrodontia0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0001572HP:0001572Macrodontia0IRF6 CL E G H36646121ORPHA:199302Isolated cleft lipHP:0040283 - Occasional99
HP:0001572HP:0001572Macrodontia0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0001572HP:0001572Macrodontia0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0001572HP:0001572Macrodontia0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001572HP:0001572Macrodontia0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040283 - Occasional252
HP:0001572HP:0001572Macrodontia0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0001572HP:0001572Macrodontia0MSX1 CL E G H44877391ORPHA:199302Isolated cleft lipHP:0040283 - Occasional12
HP:0001572HP:0001572Macrodontia0NECTIN1 CL E G H58189706ORPHA:199302Isolated cleft lipHP:0040283 - Occasional4
HP:0001572HP:0001572Macrodontia0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0001572HP:0001572Macrodontia0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation53
HP:0001572HP:0001572Macrodontia0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0001572HP:0001572Macrodontia0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0001572HP:0001572Macrodontia0TP63 CL E G H862615979ORPHA:199302Isolated cleft lipHP:0040283 - Occasional140
HP:0001572HP:0001572Macrodontia0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0001572HP:0001572Macrodontia0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0001572HP:0001572Macrodontia0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0001572HP:0011081Incisor macrodontia1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0001572HP:0011081Incisor macrodontia1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0001572HP:0011081Incisor macrodontia1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0001572HP:0011081Incisor macrodontia1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0001572HP:0011081Incisor macrodontia1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0001572HP:0011081Incisor macrodontia1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0001572HP:0011081Incisor macrodontia1CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0001572HP:0011081Incisor macrodontia1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0001572HP:0011081Incisor macrodontia1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0001572HP:0011081Incisor macrodontia1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0001572HP:0011081Incisor macrodontia1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0001572HP:0011081Incisor macrodontia1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0001572HP:0011081Incisor macrodontia1PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0001572HP:0011081Incisor macrodontia1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0001572HP:0011081Incisor macrodontia1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040281 - Very frequent7
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0001572HP:0000675Macrodontia of permanent maxillary central incisor2VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546


Genes (27) :ABCC9 ANKRD11 ATP6V1B2 BRCA1 BRF1 CDK10 COL11A1 CTCF DHX37 FARS2 GJA1 GRIA3 IRF6 KCNK9 KCNMA1 MAPK8IP3 MBD5 MGAT2 MSX1 NECTIN1 PQBP1 PURA SMOC1 TBC1D24 TP63 VPS13B VPS51

Diseases (27) :OMIM:619719 ORPHA:2332 OMIM:148050 ORPHA:79500 OMIM:617883 ORPHA:444072 OMIM:616202 OMIM:617694 OMIM:154780 ORPHA:363611 OMIM:615502 OMIM:618731 ORPHA:466722 OMIM:257850 ORPHA:364028 ORPHA:199302 ORPHA:166108 OMIM:618729 OMIM:618443 ORPHA:228402 OMIM:212066 OMIM:309500 ORPHA:438216 ORPHA:1106 OMIM:216550 ORPHA:193 OMIM:618606
 

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