KEGG DISEASE: Ectodermal dysplasia, hair-nail type

DISEASE: Ectodermal dysplasia, hair-nail type

Entry

H00649                      Disease

Name

Ectodermal dysplasia, hair-nail type

Subgroup

Ectodermal dysplasia, hair-tooth type (ECTD13)

Supergrp

Ectodermal dysplasia [DS:H02456]

Description

Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been associated with mutations in either KRT85, KRT74 or HOXC13.

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
    H00649  Ectodermal dysplasia, hair-nail type

Gene

(ECTD4) KRT85 [HSA:3891] [KO:K07605]
(ECTD7) KRT74 [HSA:121391] [KO:K07605]
(ECTD9) HOXC13 [HSA:3229] [KO:K09298]
(ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
(ECTD13) KREMEN1 [HSA:83999] [KO:K23091]

Other DBs

ICD-11:

LD27.0Y

ICD-10:

Q82.4

MeSH:

C566592

OMIM:

602032 614929 614931 129490 224900 617392

Reference

PMID:21890491

Authors

McLean WH, Moore CB

Title

Keratin disorders: from gene to therapy.

Journal

Hum Mol Genet 20:R189-97 (2011)
DOI:10.1093/hmg/ddr379

Reference

PMID:9295083

Authors

Barbareschi M, Cambiaghi S, Crupi AC, Tadini G

Title

Family with "pure" hair-nail ectodermal dysplasia.

Journal

Am J Med Genet 72:91-3 (1997)
DOI:10.1002/(SICI)1096-8628(19971003)72:1<91::AID-AJMG19>3.0.CO;2-P

Reference

PMID:16525032 (ECTD4)

Authors

Naeem M, Wajid M, Lee K, Leal SM, Ahmad W

Title

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

Journal

J Med Genet 43:274-9 (2006)
DOI:10.1136/jmg.2005.033381

Reference

PMID:24714551 (ECTD7)

Authors

Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N

Title

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Journal

PLoS One 9:e93607 (2014)
DOI:10.1371/journal.pone.0093607

Reference

PMID:23063621 (ECTD9)

Authors

Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y

Title

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

Journal

Am J Hum Genet 91:906-11 (2012)
DOI:10.1016/j.ajhg.2012.08.029

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:27049303 (ECTD13)

Authors

Issa YA, Kamal L, Rayyan AA, Dweik D, Pierce S, Lee MK, King MC, Walsh T, Kanaan M

Title

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.

Journal

Eur J Hum Genet 24:1430-5 (2016)
DOI:10.1038/ejhg.2016.29

» Japanese version

All links

Disease (6)   
   OMIM (6)   
Gene (9)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (5)   
Literature (7)   
   PubMed (7)   
All databases (22)   

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