KEGG DISEASE: Tooth agenesis

DISEASE: Tooth agenesis

Entry

H00625                      Disease

Name

Tooth agenesis;
Hypodontia

Subgroup

Dental anomalies and short stature (DASS)

Description

Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the oral epithelium and underlying mesenchyme. Perturbation of this process results in tooth agenesis. This disease could be inherited as either an autosomal dominant, autosomal recessive, or X-linked trait.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    LA30  Structural developmental anomalies of teeth and periodontal tissues
     H00625  Tooth agenesis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H00625  Tooth agenesis
  nt06507  TGFB signaling
   H00625  Tooth agenesis
  nt06516  TNF signaling
   H00625  Tooth agenesis

Pathway

hsa04310

Wnt signaling pathway

hsa04350

TGF-beta signaling pathway

hsa04064

NF-kappa B signaling pathway

Network

nt06505 WNT signaling
nt06507 TGFB signaling
nt06516 TNF signaling

Gene

(STHAG1) MSX1 [HSA:4487] [KO:K09341]
(STHAG3) PAX9 [HSA:5083] [KO:K09382]
(STHAG4) WNT10A [HSA:80326] [KO:K01357]
(STHAG7) LRP6 [HSA:4040] [KO:K03068]
(STHAG8) WNT10B [HSA:7480] [KO:K01357]
(STHAG9) GREM2 [HSA:64388] [KO:K23318]
(STHAG10) TSPEAR [HSA:54084] [KO:K24437]
(STHAGX1) EDA [HSA:1896] [KO:K05480]
(DASS) LTBP3 [HSA:4054] [KO:K08023]

Other DBs

ICD-11:

LA30.1

ICD-10:

K00.4

MeSH:

D000848

OMIM:

106600 604625 150400 616724 617073 617275 620173 313500 601216

Reference

PMID:29969831

Authors

Yu M, Wong SW, Han D, Cai T

Title

Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.

Journal

Oral Dis 25:646-651 (2019)
DOI:10.1111/odi.12931

Reference

PMID:8696335 (STHAG1)

Authors

Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE

Title

A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

Journal

Nat Genet 13:417-21 (1996)
DOI:10.1038/ng0896-417

Reference

PMID:10615120 (STHAG3)

Authors

Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI

Title

Mutation of PAX9 is associated with oligodontia.

Journal

Nat Genet 24:18-9 (2000)
DOI:10.1038/71634

Reference

PMID:24449199 (STHAG4)

Authors

Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N

Title

WNT10A mutations account for (1/4) of population-based isolated oligodontia and show phenotypic correlations.

Journal

Am J Med Genet A 164A:353-9 (2014)
DOI:10.1002/ajmg.a.36243

Reference

PMID:26387593 (STHAG7)

Authors

Massink MP, Creton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G

Title

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Journal

Am J Hum Genet 97:621-6 (2015)
DOI:10.1016/j.ajhg.2015.08.014

Reference

PMID:27321946 (STHAG8)

Authors

Yu P, Yang W, Han D, Wang X, Guo S, Li J, Li F, Zhang X, Wong SW, Bai B, Liu Y, Du J, Sun ZS, Shi S, Feng H, Cai T

Title

Mutations in WNT10B Are Identified in Individuals with Oligodontia.

Journal

Am J Hum Genet 99:195-201 (2016)
DOI:10.1016/j.ajhg.2016.05.012

Reference

PMID:26416033 (STHAG9)

Authors

Kantaputra PN, Kaewgahya M, Hatsadaloi A, Vogel P, Kawasaki K, Ohazama A, Ketudat Cairns JR

Title

GREMLIN 2 Mutations and Dental Anomalies.

Journal

J Dent Res 94:1646-52 (2015)
DOI:10.1177/0022034515608168

Reference

PMID:30046887 (STHAG10)

Authors

Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO

Title

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Journal

Hum Genet 137:689-703 (2018)
DOI:10.1007/s00439-018-1907-y

Reference

PMID:16583127 (STHAGX1)

Authors

Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, Liu L, Xu J, Li T, Yan Y, He L

Title

A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

Journal

J Hum Genet 51:498-502 (2006)
DOI:10.1007/s10038-006-0389-2

Reference

PMID:19344874 (DASS)

Authors

Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB

Title

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

Journal

Am J Hum Genet 84:519-23 (2009)
DOI:10.1016/j.ajhg.2009.03.007

LinkDB

» Japanese version

DISEASE: Odontoonychodermal dysplasia

Entry

H00646                      Disease

Name

Odontoonychodermal dysplasia

Description

Odontoonychodermal dysplasia (OODD) is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00646  Odontoonychodermal dysplasia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H00646  Odontoonychodermal dysplasia

Pathway

hsa04550

Signaling pathways regulating pluripotency of stem cells

hsa04310

Wnt signaling pathway

hsa04916

Melanogenesis

hsa04390

Hippo signaling pathway

Network

nt06505 WNT signaling

Gene

WNT10A [HSA:80326] [KO:K01357]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:6837628

Authors

Fadhil M, Ghabra TA, Deeb M, Der Kaloustian VM

Title

Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia.

Journal

Am J Med Genet 14:335-46 (1983)
DOI:10.1002/ajmg.1320140213

Reference

PMID:19504607

Authors

Priolo M

Title

Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.

Journal

Am J Med Genet A 149A:2003-13 (2009)
DOI:10.1002/ajmg.a.32804

Reference

PMID:17870445

Authors

Adams BB

Title

Odonto-onycho-dermal dysplasia syndrome.

Journal

J Am Acad Dermatol 57:732-3 (2007)
DOI:10.1016/j.jaad.2007.04.015

Reference

PMID:17847007 (WNT10A)

Authors

Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A

Title

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

Journal

Am J Hum Genet 81:821-8 (2007)
DOI:10.1086/520064

LinkDB

» Japanese version

DISEASE: Schopf-Schulz-Passarge syndrome

Entry

H00781                      Disease

Name

Schopf-Schulz-Passarge syndrome;
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis

Description

Schopf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease.