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Hair morphology 2(HRM2)

MedGen UID:
437280
Concept ID:
C2697452
Disease or Syndrome
Synonyms: CURLY HAIR; HRM2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 139450

Clinical features

Curly hair
MedGen UID:
488919
Concept ID:
C0558165
Finding

Recent clinical studies

Etiology

Park JH, Park JM, Kim NR, Manonukul K
Int J Dermatol 2017 Jul;56(7):784-787. Epub 2017 Apr 24 doi: 10.1111/ijd.13638. PMID: 28436024
Ho YY, Brims M, McNevin D, Spector TD, Martin NG, Medland SE
Twin Res Hum Genet 2016 Aug;19(4):351-8. Epub 2016 Jun 13 doi: 10.1017/thg.2016.45. PMID: 27291867
Loussouarn G, Lozano I, Panhard S, Collaudin C, El Rawadi C, Genain G
Eur J Dermatol 2016 Apr 1;26(2):144-54. doi: 10.1684/ejd.2015.2726. PMID: 27019510
Pośpiech E, Karłowska-Pik J, Marcińska M, Abidi S, Andersen JD, Berge MVD, Carracedo Á, Eduardoff M, Freire-Aradas A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D, Weiler N, Schneider PM, Ballard D, Børsting C, Parson W, Phillips C, Branicki W; EUROFORGEN-NoE Consortium.
Forensic Sci Int Genet 2015 Nov;19:280-288. Epub 2015 Sep 14 doi: 10.1016/j.fsigen.2015.09.004. PMID: 26414620
Luther N, Darvin ME, Sterry W, Lademann J, Patzelt A
Skin Pharmacol Physiol 2012;25(4):182-91. Epub 2012 May 4 doi: 10.1159/000337933. PMID: 22573092

Diagnosis

Khajuria H, Nayak BP, Badiye A
Med Sci Law 2018 Jul;58(3):137-146. Epub 2018 Apr 22 doi: 10.1177/0025802418768305. PMID: 29683043
Maas A, Maier C, Iwersen-Bergmann S, Madea B, Hess C
J Pharm Biomed Anal 2017 Nov 30;146:236-243. Epub 2017 Sep 1 doi: 10.1016/j.jpba.2017.08.035. PMID: 28888172
Azar RP, Thomas AH, Maurer M, Lindner G
Am J Dermatopathol 2016 Oct;38(10):732-8. doi: 10.1097/DAD.0000000000000526. PMID: 26844618
Pośpiech E, Karłowska-Pik J, Marcińska M, Abidi S, Andersen JD, Berge MVD, Carracedo Á, Eduardoff M, Freire-Aradas A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D, Weiler N, Schneider PM, Ballard D, Børsting C, Parson W, Phillips C, Branicki W; EUROFORGEN-NoE Consortium.
Forensic Sci Int Genet 2015 Nov;19:280-288. Epub 2015 Sep 14 doi: 10.1016/j.fsigen.2015.09.004. PMID: 26414620
Van Neste DJ
Skin Res Technol 2015 Aug;21(3):373-9. Epub 2015 Jan 13 doi: 10.1111/srt.12207. PMID: 25639154

Therapy

Park JH, Park JM, Kim NR, Manonukul K
Int J Dermatol 2017 Jul;56(7):784-787. Epub 2017 Apr 24 doi: 10.1111/ijd.13638. PMID: 28436024
Vleut RE, van Poppel JE, Dercksen MW, Peerbooms M, Houterman S, Breed WP
Support Care Cancer 2013 Jul;21(7):1807-14. Epub 2013 Jan 22 doi: 10.1007/s00520-013-1723-9. PMID: 23338231
Narajczyk M, Tylki-Szymańska A, Węgrzyn G
Gene 2012 Aug 10;504(2):292-5. Epub 2012 May 22 doi: 10.1016/j.gene.2012.05.006. PMID: 22633875
Luther N, Darvin ME, Sterry W, Lademann J, Patzelt A
Skin Pharmacol Physiol 2012;25(4):182-91. Epub 2012 May 4 doi: 10.1159/000337933. PMID: 22573092
Wickett RR, Kossmann E, Barel A, Demeester N, Clarys P, Vanden Berghe D, Calomme M
Arch Dermatol Res 2007 Dec;299(10):499-505. Epub 2007 Oct 25 doi: 10.1007/s00403-007-0796-z. PMID: 17960402

Prognosis

Pośpiech E, Karłowska-Pik J, Marcińska M, Abidi S, Andersen JD, Berge MVD, Carracedo Á, Eduardoff M, Freire-Aradas A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D, Weiler N, Schneider PM, Ballard D, Børsting C, Parson W, Phillips C, Branicki W; EUROFORGEN-NoE Consortium.
Forensic Sci Int Genet 2015 Nov;19:280-288. Epub 2015 Sep 14 doi: 10.1016/j.fsigen.2015.09.004. PMID: 26414620
Bean JF, Hebal F, Hunter CJ
J Pediatr Surg 2015 Sep;50(9):1583-5. Epub 2014 Nov 28 doi: 10.1016/j.jpedsurg.2014.11.041. PMID: 25783322
Daneshpazhooh M, Mahmoudi HR, Rezakhani S, Valikhani M, Naraghi ZS, Mohammadi Y, Habibi A, Chams-Davatchi C
Clin Exp Dermatol 2015 Jul;40(5):485-8. Epub 2015 Feb 16 doi: 10.1111/ced.12595. PMID: 25689629
Oinonen KA
Psychoneuroendocrinology 2009 Jun;34(5):713-26. Epub 2009 Jan 7 doi: 10.1016/j.psyneuen.2008.11.009. PMID: 19131172
Kau CH, Richmond S
Am J Orthod Dentofacial Orthop 2008 Dec;134(6):751-60. doi: 10.1016/j.ajodo.2007.01.037. PMID: 19061801

Clinical prediction guides

Pośpiech E, Karłowska-Pik J, Marcińska M, Abidi S, Andersen JD, Berge MVD, Carracedo Á, Eduardoff M, Freire-Aradas A, Morling N, Sijen T, Skowron M, Söchtig J, Syndercombe-Court D, Weiler N, Schneider PM, Ballard D, Børsting C, Parson W, Phillips C, Branicki W; EUROFORGEN-NoE Consortium.
Forensic Sci Int Genet 2015 Nov;19:280-288. Epub 2015 Sep 14 doi: 10.1016/j.fsigen.2015.09.004. PMID: 26414620
Van Neste DJ
Skin Res Technol 2015 Aug;21(3):373-9. Epub 2015 Jan 13 doi: 10.1111/srt.12207. PMID: 25639154
Kimura R, Watanabe C, Kawaguchi A, Kim YI, Park SB, Maki K, Ishida H, Yamaguchi T
Hum Mol Genet 2015 May 1;24(9):2673-80. Epub 2015 Jan 22 doi: 10.1093/hmg/ddv014. PMID: 25612571
Wortmann FJ, Wortmann G, Haake HM, Eisfeld W
J Cosmet Sci 2014 Mar-Apr;65(2):59-68. PMID: 24797022
Luther N, Darvin ME, Sterry W, Lademann J, Patzelt A
Skin Pharmacol Physiol 2012;25(4):182-91. Epub 2012 May 4 doi: 10.1159/000337933. PMID: 22573092

Recent systematic reviews

Waśkiel A, Rakowska A, Sikora M, Olszewska M, Rudnicka L
J Dermatol 2018 Jun;45(6):692-700. Epub 2018 Mar 22 doi: 10.1111/1346-8138.14283. PMID: 29569271
Hwang K, Lee JH, Lim HJ
J Craniofac Surg 2017 Mar;28(2):524-527. doi: 10.1097/SCS.0000000000003304. PMID: 28005653
Bessis D, Bigorre M, Malissen N, Captier G, Chiaverini C, Abasq C, Barbarot S, Boccara O, Bourrat E, El Fertit H, Eschard C, Hubiche T, Lacour JP, Leboucq N, Mahé E, Mallet S, Marque M, Martin L, Mazereeuw-Hautier J, Milla N, Phan A, Plantin P, Picot MC, Puzenat E, Rigau V, Vabres P, Fraitag S, Boralevi F; Groupe de Recherche Clinique en Dermatologie Pédiatrique.
J Am Acad Dermatol 2017 Mar;76(3):478-487. Epub 2016 Oct 11 doi: 10.1016/j.jaad.2016.08.046. PMID: 27742172
Berneburg M, Dietz K, Niederle C, Göz G
Am J Orthod Dentofacial Orthop 2010 Apr;137(4):450.e1-9; discussion 450-1. doi: 10.1016/j.ajodo.2009.10.029. PMID: 20362894
Costigan KA, Sipsma HL, DiPietro JA
Birth 2006 Dec;33(4):311-4. doi: 10.1111/j.1523-536X.2006.00128.x. PMID: 17150070

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