KEGG DISEASE: Hypohidrotic ectodermal dysplasia

DISEASE: Hypohidrotic ectodermal dysplasia

Entry

H00651                      Disease

Name

Hypohidrotic ectodermal dysplasia

Subgroup

Anhidrotic ectodermal dysplasia

Supergrp

Ectodermal dysplasia [DS:H02456]

Description

Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males.

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
    H00651  Hypohidrotic ectodermal dysplasia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06516  TNF signaling
   H00651  Hypohidrotic ectodermal dysplasia

Pathway

hsa04064

NF-kappa B signaling pathway

hsa04060

Cytokine-cytokine receptor interaction

Network

nt06516 TNF signaling

Gene

(ECTD1) EDA [HSA:1896] [KO:K05480]
(ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
(ECTD11A/11B) EDARADD [HSA:128178] [KO:K23324]
(ECTD12) KDF1 [HSA:126695] [KO:K23346]
(ECTD15) CST6 [HSA:1474] [KO:K13902]

Other DBs

ICD-11:

LD27.0

ICD-10:

Q82.4

MeSH:

D053358 D053359 D053360

OMIM:

305100 129490 224900 614940 614941 617337 618535

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:12823289

Authors

Lamartine J

Title

Towards a new classification of ectodermal dysplasias.

Journal

Clin Exp Dermatol 28:351-5 (2003)
DOI:10.1046/j.1365-2230.2003.01319.x

Reference

PMID:8696334 (ECTD1)

Authors

Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D

Title

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.

Journal

Nat Genet 13:409-16 (1996)
DOI:10.1038/ng0895-409

Reference

PMID:10431241 (ECTD10A/10B)

Authors

Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J

Title

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

Journal

Nat Genet 22:366-9 (1999)
DOI:10.1038/11937

Reference

PMID:17354266 (ECTD11A)

Authors

Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A

Title

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

Journal

Hum Mutat 28:703-9 (2007)
DOI:10.1002/humu.20500

Reference

PMID:11780064 (ECTD11B)

Authors

Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA

Title

Gene defect in ectodermal dysplasia implicates a death domain adapter in development.

Journal

Nature 414:913-6 (2001)
DOI:10.1038/414913a

Reference

PMID:27838789 (ECTD12)

Authors

Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, Zaidan H, Alkuraya FS

Title

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.

Journal

Hum Genet 136:99-105 (2017)
DOI:10.1007/s00439-016-1741-z

Reference

PMID:30425301 (ECTD15)

Authors

van den Bogaard EHJ, van Geel M, van Vlijmen-Willems IMJJ, Jansen PAM, Peppelman M, van Erp PEJ, Atalay S, Venselaar H, Simon MEH, Joosten M, Schalkwijk J, Zeeuwen PLJM

Title

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.

Journal

Genet Med 21:1559-1567 (2019)
DOI:10.1038/s41436-018-0355-3

LinkDB

» Japanese version

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

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