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 | ✓ | ✓ | ✓ | ✓ |
OMIM: Online Mendelian Inheritance in Man; NF-kB: nuclear factor kappa B.
* In OMIM only described as isolated tooth agenesis.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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