Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
expand
Abnormality of the dentition (HP:0000164)help
..Starting node
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Premature loss of teeth (HP:0006480)help
Term ID: 6480
Name: Premature loss of teeth
Synonym: Early tooth loss; Loss of teeth; Premature exfoliation of teeth; Premature teeth loss; Premature tooth loss
Definition: Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
Comments:
Reference: HP:0006480
Genes and Diseases:
 
       Child Nodes:
........expandPremature loss of primary teeth (HP:0006323) help
........expandPremature loss of permanent teeth (HP:0006357) help

 Sister Nodes: 
..expandAbnormal number of teeth (HP:0006483) help
..expandAbnormal periodontium morphology (HP:0410026) help
..expandAbnormality of canine (HP:0011078) help
..expandAbnormality of dental eruption (HP:0006292) help
..expandAbnormality of dental morphology (HP:0006482) help
..expandAbnormality of dental structure (HP:0011061) help
..expandAbnormality of molar (HP:0011077) help
..expandAbnormality of premolar (HP:0011076) help
..expandAbnormality of primary teeth (HP:0006481) help
..expandAbnormality of the incisor (HP:0000676) help
..expandBuried teeth encased in mucopolysaccharide (HP:0006326) help
..expandFragile teeth (HP:0025124) help
..expandIrregular dentition (HP:0040079) help
..expandOdontogenic neoplasm (HP:0100612) help
..expandPeriapical bone loss (HP:0000700) help
..expandPeriodontitis (HP:0000704) help
..expandTooth malposition (HP:0000692) 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:0006480HP:0006480Premature loss of teeth0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0006480HP:0006480Premature loss of teeth0ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult126
HP:0006480HP:0006480Premature loss of teeth0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood126
HP:0006480HP:0006480Premature loss of teeth0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0006480HP:0006480Premature loss of teeth0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0006480HP:0006480Premature loss of teeth0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0006480HP:0006480Premature loss of teeth0CAT CL E G H8471516ORPHA:926Acatalasemia5
HP:0006480HP:0006480Premature loss of teeth0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040282 - Frequent2
HP:0006480HP:0006480Premature loss of teeth0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0006480HP:0006480Premature loss of teeth0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0006480HP:0006480Premature loss of teeth0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0006480HP:0006480Premature loss of teeth0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0006480HP:0006480Premature loss of teeth0CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia51
HP:0006480HP:0006480Premature loss of teeth0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0006480HP:0006480Premature loss of teeth0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome.50
HP:0006480HP:0006480Premature loss of teeth0CTSC CL E G H10752528OMIM:170650Periodontitis, aggressive, 1.50
HP:0006480HP:0006480Premature loss of teeth0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0006480HP:0006480Premature loss of teeth0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0006480HP:0006480Premature loss of teeth0EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia86
HP:0006480HP:0006480Premature loss of teeth0EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia86
HP:0006480HP:0006480Premature loss of teeth0EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia56
HP:0006480HP:0006480Premature loss of teeth0EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia56
HP:0006480HP:0006480Premature loss of teeth0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0006480HP:0006480Premature loss of teeth0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0006480HP:0006480Premature loss of teeth0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0006480HP:0006480Premature loss of teeth0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0006480HP:0006480Premature loss of teeth0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0006480HP:0006480Premature loss of teeth0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006480HP:0006480Premature loss of teeth0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0006480HP:0006480Premature loss of teeth0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0006480HP:0006480Premature loss of teeth0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0006480HP:0006480Premature loss of teeth0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0006480HP:0006480Premature loss of teeth0KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia1
HP:0006480HP:0006480Premature loss of teeth0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome.110
HP:0006480HP:0006480Premature loss of teeth0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0006480HP:0006480Premature loss of teeth0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0006480HP:0006480Premature loss of teeth0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0006480HP:0006480Premature loss of teeth0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0006480HP:0006480Premature loss of teeth0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0006480HP:0006480Premature loss of teeth0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0006480HP:0006480Premature loss of teeth0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 626
HP:0006480HP:0006480Premature loss of teeth0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0006480HP:0006480Premature loss of teeth0PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0006480HP:0006480Premature loss of teeth0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0006480HP:0006480Premature loss of teeth0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia7
HP:0006480HP:0006480Premature loss of teeth0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0006480HP:0006480Premature loss of teeth0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0006480HP:0006480Premature loss of teeth0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0006480HP:0006480Premature loss of teeth0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0006480HP:0006480Premature loss of teeth0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0006480HP:0006480Premature loss of teeth0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0006480HP:0006480Premature loss of teeth0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosis2
HP:0006480HP:0006480Premature loss of teeth0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional
HP:0006480HP:0006480Premature loss of teeth0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional82
HP:0006480HP:0006480Premature loss of teeth0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosis82
HP:0006480HP:0006480Premature loss of teeth0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0006480HP:0006480Premature loss of teeth0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0006480HP:0006480Premature loss of teeth0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0006480HP:0006480Premature loss of teeth0TNFRSF11A CL E G H879211908OMIM:174810Familial expansile osteolysis.72
HP:0006480HP:0006480Premature loss of teeth0TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset.72
HP:0006480HP:0006480Premature loss of teeth0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset.44
HP:0006480HP:0006480Premature loss of teeth0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosis44
HP:0006480HP:0006480Premature loss of teeth0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0006480HP:0006480Premature loss of teeth0TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0006480HP:0006480Premature loss of teeth0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0006480HP:0006480Premature loss of teeth0VDR CL E G H742112679ORPHA:93160Hypocalcemic vitamin D-resistant rickets104
HP:0006480HP:0006480Premature loss of teeth0WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasia71
HP:0006480HP:0006480Premature loss of teeth0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndrome71
HP:0006480HP:0006480Premature loss of teeth0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0006480HP:0006357Premature loss of permanent teeth1ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult.126
HP:0006480HP:0006323Premature loss of primary teeth1ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult.126
HP:0006480HP:0006323Premature loss of primary teeth1ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0006480HP:0006323Premature loss of primary teeth1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040283 - Occasional15
HP:0006480HP:0006323Premature loss of primary teeth1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040283 - Occasional7
HP:0006480HP:0006357Premature loss of permanent teeth1CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040284 - Very rare5
HP:0006480HP:0006323Premature loss of primary teeth1CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0006480HP:0006323Premature loss of primary teeth1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0006480HP:0006323Premature loss of primary teeth1CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent51
HP:0006480HP:0006323Premature loss of primary teeth1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0006480HP:0006323Premature loss of primary teeth1EDAR CL E G H109132895ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0006480HP:0006323Premature loss of primary teeth1EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0006480HP:0006323Premature loss of primary teeth1EDARADD CL E G H12817814341ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0006480HP:0006323Premature loss of primary teeth1EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0006480HP:0006357Premature loss of permanent teeth1ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040283 - Occasional79
HP:0006480HP:0006323Premature loss of primary teeth1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040282 - Frequent136
HP:0006480HP:0006323Premature loss of primary teeth1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0006480HP:0006323Premature loss of primary teeth1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0006480HP:0006323Premature loss of primary teeth1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040281 - Very frequent68
HP:0006480HP:0006357Premature loss of permanent teeth1ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0006480HP:0006323Premature loss of primary teeth1KDF1 CL E G H12669526624ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent1
HP:0006480HP:0006357Premature loss of permanent teeth1LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0006480HP:0006323Premature loss of primary teeth1PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0006480HP:0006357Premature loss of permanent teeth1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0006480HP:0006323Premature loss of primary teeth1SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0006480HP:0006323Premature loss of primary teeth1TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0006480HP:0006323Premature loss of primary teeth1TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0006480HP:0006357Premature loss of permanent teeth1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0006480HP:0006323Premature loss of primary teeth1TRAF6 CL E G H718912036ORPHA:1810Autosomal dominant hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent
HP:0006480HP:0006323Premature loss of primary teeth1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0006480HP:0006323Premature loss of primary teeth1VDR CL E G H742112679ORPHA:93160Hypocalcemic vitamin D-resistant ricketsHP:0040282 - Frequent104
HP:0006480HP:0006323Premature loss of primary teeth1WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent71
HP:0006480HP:0006323Premature loss of primary teeth1WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndromeHP:0040282 - Frequent71


Genes (55) :AEBP1 ALPL C1R C1S CAT CDH11 CLCN7 CLPB COL3A1 CSTB CTSC CYP27A1 DKC1 EDAR EDARADD ELANE ERCC4 FERMT1 FIG4 GFI1 GJA1 ITGB4 KDF1 KRT14 LMNA LRP4 MIA3 NOTCH2 NTRK1 PARN PIGT PLEKHM1 POLR3A PRKD1 RBM28 RSPO1 RUNX2 SEC23A SH3PXD2B SLC35C1 SNX10 SRP54 TCIRG1 TERC TERT TINF2 TNFRSF11A TNFRSF11B TNFSF11 TP63 TRAF6 VAC14 VDR WNT10A ZMPSTE24

Diseases (52) :ORPHA:536532 OMIM:146300 OMIM:241510 OMIM:130080 ORPHA:75392 ORPHA:926 ORPHA:1299 ORPHA:667 ORPHA:486 OMIM:130050 ORPHA:286 ORPHA:248 ORPHA:678 OMIM:245000 OMIM:170650 ORPHA:909 OMIM:305000 ORPHA:1810 ORPHA:2686 OMIM:610965 ORPHA:2908 ORPHA:3472 OMIM:216340 ORPHA:2710 OMIM:164200 OMIM:619816 OMIM:161000 ORPHA:69087 OMIM:248370 OMIM:212780 OMIM:619269 OMIM:102500 ORPHA:642 OMIM:616353 ORPHA:369837 OMIM:618107 ORPHA:3455 OMIM:617364 ORPHA:157954 OMIM:610644 OMIM:156510 ORPHA:50814 ORPHA:137834 ORPHA:99843 OMIM:127550 OMIM:174810 OMIM:602080 OMIM:239000 OMIM:103285 ORPHA:93160 ORPHA:50944 OMIM:608612
 

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