Classification of ectodermal dysplasias

	Affected gene(s)	Disease(s)/ syndrome(s)-previously suggested nomenclature	OMIM number	Hypodontia	Hair	Nail phenotypic	Glandular features	Additional symptoms
EDA-NF-kB pathway	EDA	Ectodermal dysplasia 1, hypohidrotic, X-linked (Christ-Siemens-Touraine syndrome, XLHED)	305100	✓	✓		✓
	EDAR	Ectodermal dysplasia 10A and 10B, AD and AR (ECTD10A, B)	129490, 224900	✓	✓	✓	✓
	EDARADD	Ectodermal dysplasia 11A and 11B, AD and AR (ECTD11A, B)	614940, 614941	✓	✓	✓	✓
	IKBKG	Incontinentia pigmenti (IP)	308300	✓	✓	✓
	IKBKG	Ectodermal dysplasia and immunodeficiency 1, AD and AR (EDAID1)	300291, 300301	✓	✓		✓
	CHUK	Cocoon syndrome	613630		✓	✓	✓	✓
	NFKBIA	Ectodermal dysplasia and immunodeficiency 2 (EDAID2)	612132	✓	✓		✓
	PRKD1	Congenital heart defects and ectodermal dysplasia (CHDED)	617364	✓	✓	✓		✓
	TRAF6	Hidrotic form of ectodermal dysplasia^[1,2]	602355	✓	✓	✓
WNT pathway	PORCN	Focal dermal hypoplasia (FDH) or Goltz-Gorlin syndrome	305600	✓	✓	✓	✓	✓
	TWIST2	Focal facial dermal dysplasia 3/Ablepharon-macrostomia syndrome (AMS)	136500, 200110		✓		✓	✓
	WNT10A	Odonto-onycho-dermal dysplasia (OODD)/Schöpf-Schulz-Passarge syndrome (SSPS)	257980, 224750	✓	✓	✓	✓
	KREMEN1	Ectodermal dysplasia 13, hair/tooth type (ECTD13)	617392	✓	✓
	TBX3	Ulnar-mammary syndrome (UMS)	181450	✓	✓		✓	✓
	LEF1	Ectodermal dysplasia with or without hypohidrosis^[3,4]	153245	✓	✓	✓	✓
	LRP6	Ectodermal dysplasia with or without hypohidrosis^[5]	(603507)*	✓	✓	✓	✓
	MSX1	Ectodermal dysplasia 3, Witkop type (ECTD3 or Witkop syndrome)	189500	✓		✓
	TP63	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT)	103285	✓	✓	✓		✓
p63 pathway	TP63	Ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome (EEC)	604292	✓	✓	✓	✓	✓
	TP63	Limb-mammary syndrome (LMS)	603543	✓		✓	✓	✓
	TP63	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC/Rapp-Hodgkin syndrome)	106260, 129400	✓	✓	✓	✓	✓
	CDH3	Ectodermal dysplasia, ectrodactyly, macular dystrophy syndrome (EEMS)	225280	✓	✓			✓
	KDF1	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12)	617337	✓	✓	✓	✓
	DLX3	Tricho-dento-osseous syndrome (TDO)	190320		✓	✓
	RIPK4	Curly hair-ankyloblepharon-nail dysplasia syndrome (CHANDS); complex lethal subtype known as Bartsocas-Papas syndrome 1 (BPS1)	214350, 263650		✓	✓		✓
Structure group	PKP1	Ectodermal dysplasia-skin fragility syndrome (EDSFS)	604536		✓	✓	✓	✓
	GRHL2	Ectodermal dysplasia-short stature syndrome (ECTDS)	616029	✓		✓		✓
	PVRL1	Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)	225060	✓	✓	✓		✓
	PVRL4	Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1)	613573	✓	✓	✓		✓
	KRT74	Ectodermal dysplasia 7, hair/nail type (ECTD7)	614929		✓	✓
	KRT85	Ectodermal dysplasia 4, hair/nail type (ECTD4)	602032		✓	✓
	GJB2	Keratitis-ichthyosis-deafness syndrome, AD (KID)	148210		✓	✓		✓
	GJA1	Oculo-dento-digital dysplasia (ODDD, ODDR)	164200, 257850	✓	✓	✓	✓	✓
	GJB6	Clouston syndrome or ectodermal dysplasia 2, Clouston type (ECTD2)	129500		✓	✓
Others	TSPEAR	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14)	618180	✓	✓	✓	✓
	HOXC13	Ectodermal dysplasia 9, hair/nail type (ECTD9)	614931		✓	✓
	CST6	Ectodermal dysplasia 1, hypohidrotic/hair type (ECTD15)	618535		✓		✓
	AP1B1	Keratitis-ichthyosis-deafness syndrome, AR (KIDAR)	242150	✓	✓	✓	✓	✓
	TRPS1	Trichorhinophalangeal syndrome, type I (TRPS1) or type III (TRPS3)	190350, 190351	✓	✓	✓		✓
	TRPS1 + EXT1	Trichorhinophalangeal syndrome, type II (TRPS2)	150230	✓	✓	✓		✓

Updated classification of the ectodermal dysplasias with 15 newly added syndromes (bold).

OMIM: Online Mendelian Inheritance in Man; NF-kB: nuclear factor kappa B.

* In OMIM only described as isolated tooth agenesis.

References:

Asano N, Yasuno S, Hayashi R, Shimomura Y. Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia. J Dermatol 2021; 48:1533.
Fujikawa H, Farooq M, Fujimoto A, et al. Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia. Br J Dermatol 2013; 168:629.
Lévy J, Capri Y, Rachid M, et al. LEF1 haploinsufficiency causes ectodermal dysplasia. Clin Genet 2020; 97:595.
Dufour W, Alawbathani S, Jourdain AS, et al. Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling. Genet Med 2022; 24:1708.
Yu M, Fan Z, Wong SW, et al. Lrp6 Dynamic Expression in tooth development and mutations in oligodontia. J Dent Res 2021; 100:415.

From: Peschel N, Wright JT, Koster MI, et al. Molecular pathway-based classification of ectodermal dysplasias: First five-yearly update. Genes (Basel) 2022; 13:2327. Copyright © 2022 The Authors. Available at: https://www.mdpi.com/2073-4425/13/12/2327 (Accessed August 16, 2023). Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Classification of ectodermal dysplasias