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: Split-hand/foot malformation

Entry

H00471                      Disease

Name

Split-hand/foot malformation

Description

Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in central ray deficiency in SHFM patients.

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 skeleton
    LB99  Reduction defects of upper limb
     H00471  Split-hand/foot malformation
    LB9A  Reduction defects of lower limb
     H00471  Split-hand/foot malformation
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H00471  Split-hand/foot malformation
  nt06505  WNT signaling
   H00471  Split-hand/foot malformation

Pathway

hsa04010

MAPK signaling pathway

hsa04310

Wnt signaling pathway

Network

nt06505 WNT signaling
nt06526 MAPK signaling

Gene

(SHFM1/1D) DLX5 [HSA:1749] [KO:K18489]
(SHFM4) TP63 [HSA:8626] [KO:K10149]
(SHFM6) WNT10B [HSA:7480] [KO:K01357]
(SFMMP) MAP3K20 [HSA:51776] [KO:K04424]

Comment

SHFM1D refers to split-hand/foot malformation 1 with sensorineural hearing loss.
SFMMP refers to split-foot malformation with mesoaxial polydactyly.

Other DBs

ICD-11:

LB99.8 LB9A.6

ICD-10:

Q71.6 Q72.7

MeSH:

C567893 C564056 C565437 C565344 C564674 C567616

OMIM:

183600 220600 605289 225300 616890

Reference

PMID:16283879

Authors

Elliott AM, Evans JA, Chudley AE

Title

Split hand foot malformation (SHFM).

Journal

Clin Genet 68:501-5 (2005)
DOI:10.1111/j.1399-0004.2005.00530.x

Reference

PMID:16763964

Authors

Basel D, Kilpatrick MW, Tsipouras P

Title

The expanding panorama of split hand foot malformation.

Journal

Am J Med Genet A 140:1359-65 (2006)
DOI:10.1002/ajmg.a.31304

Reference

PMID:12668597

Authors

Duijf PH, van Bokhoven H, Brunner HG

Title

Pathogenesis of split-hand/split-foot malformation.

Journal

Hum Mol Genet 12 Spec No 1:R51-60 (2003)
DOI:10.1093/hmg/ddg090

Reference

PMID:24496061 (SHFM1)

Authors

Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q

Title

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Journal

Eur J Hum Genet 22:1105-10 (2014)
DOI:10.1038/ejhg.2014.7

Reference

PMID:22121204 (SHFM1D)

Authors

Shamseldin HE, Faden MA, Alashram W, Alkuraya FS

Title

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.

Journal

J Med Genet 49:16-20 (2012)
DOI:10.1136/jmedgenet-2011-100556

Reference

PMID:10839977 (SHFM4)

Authors

Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P

Title

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

Journal

Am J Hum Genet 67:59-66 (2000)
DOI:10.1086/302972

Reference

PMID:21554266 (SHFM6)

Authors

Khan S, Basit S, Zimri FK, Ali N, Ali G, Ansar M, Ahmad W

Title

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.

Journal

Clin Genet 82:48-55 (2012)
DOI:10.1111/j.1399-0004.2011.01698.x

Reference

PMID:26755636 (SFMMP)

Authors

Spielmann M, Kakar N, Tayebi N, Leettola C, Nurnberg G, Sowada N, Lupianez DG, Harabula I, Flottmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmuller J, Thiele H, van Bokhoven H, Schwartz CE, Nurnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G

Title

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.

Journal

Genome Res 26:183-91 (2016)
DOI:10.1101/gr.199430.115

LinkDB

» Japanese version

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