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Hypotrichosis simplex(HYPT1)

MedGen UID:
344257
Concept ID:
C1854310
Disease or Syndrome
Synonyms: Hereditary hypotrichosis simplex; HYPOTRICHOSIS 1; HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY; HYPT1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
autosomal dominant
MedGen UID:
832180
Concept ID:
CN227381
Intellectual Product
Describes a disorder in which only one mutated allele located on one of the 22 autosomes (non-sex chromosomes) is sufficient to express the phenotype and which carries a 50% risk of being passed on to offspring.
autosomal recessive
MedGen UID:
832197
Concept ID:
CN227382
Intellectual Product
Describes a disorder in which two mutated alleles located on one of the 22 autosomes (non-sex chromosomes) are necessary to express the phenotype and which carries a 25% risk of being passed on to offspring.
 
Gene: APCDD1
Cytogenetic location: 18p11.22
OMIM®: 605389
Orphanet: ORPHA55654

Definition

Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., 146520) and the generalized form, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, 278150) (summary by Shimomura et al., 2010). Genetic Heterogeneity of Nonsyndromic Hypotrichosis Forms of nonsyndromic hypotrichosis include HYPT1; HYPT2 (146520), caused by mutation in the corneodesmosin gene (CDSN; 602593) on chromosome 6p21.3; HYPT3 (613981), caused by mutation in the keratin-74 gene (KRT74; 608248) on chromosome 12q13; HYPT4 (146550), caused by mutation in upstream regulatory regions of the hairless gene (HR; 602302) on chromosome 8p21.2; HYPT5 (612841), mapped to chromosome 1p21-q21; HYPT6 (607903), caused by mutation in the desmoglein-4 gene (DSG4; 607892) on chromosome 18q12; HYPT7 (604379), caused by mutation in the lipase H gene (LIPH; 607365) on chromosome 3q27-q28; HYPT8 (278150), caused by mutation in the LPAR6 gene (609239) on chromosome 13q14; HYPT9 (614237), mapped to chromosome 10q11.23-q22.3; HYPT10 (614238), mapped to chromosome 7p22.3-p21.3; HYPT11 (615059), caused by mutation in the small nuclear ribonucleoprotein polypeptide E gene (SNRPE; 128260) on chromosome 1q32; HYPT12 (615885), caused by mutation in the RPL21 gene (603636) on chromosome 13q12; and HYPT13 (615896), caused by mutation in the KRT71 gene (608245) on chromosome 12q13. [from OMIM]

Clinical features

Hypotrichosis
MedGen UID:
6993
Concept ID:
C0020678
Disease or Syndrome
Presence of less than the normal amount of hair. (Dorland, 27th ed)

Recent clinical studies

Etiology

Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N
PLoS One 2014;9(4):e93607. Epub 2014 Apr 8 doi: 10.1371/journal.pone.0093607. PMID: 24714551Free PMC Article
Kolb-Mäurer A, Betz RC, Hamm H
JAMA Dermatol 2014 May;150(5):567-8. doi: 10.1001/jamadermatol.2013.8078. PMID: 24647624
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC
Am J Hum Genet 2013 Jan 10;92(1):81-7. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.022. [Epub ahead of print] PMID: 23246290Free PMC Article
Xu C, Zhang L, Chen N, Su B, Pan CM, Li JY, Zhang GW, Liu Z, Sheng Y, Song HD
J Cutan Pathol 2010 Jul;37(7):758-63. Epub 2009 Sep 14 doi: 10.1111/j.1600-0560.2009.01415.x. [Epub ahead of print] PMID: 19751230
Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, Nöthen MM, Janecke AR, Betz RC
J Invest Dermatol 2009 Dec;129(12):2772-6. Epub 2009 Jun 18 doi: 10.1038/jid.2009.154. [Epub ahead of print] PMID: 19536142

Diagnosis

Kantaputra PN, Limwongse C, Tochareontanaphol C, Mutirangura A, Mevatee U, Praphanphoj V
Am J Med Genet A 2006 Dec 1;140(23):2598-602. doi: 10.1002/ajmg.a.31386. PMID: 17001671
Poyanmehr S, Freyschmidt-Paul P, Happle R, Hoffmann R
Eur J Dermatol 2001 Jul-Aug;11(4):383-4. PMID: 11458928
Cambiaghi S, Barbareschi M
Pediatr Dermatol 1999 Jul-Aug;16(4):301-4. PMID: 10469417
Just M, Ribera M, Fuente MJ, Bielsa I, Ferrándiz C
Dermatology 1998;196(3):339-42. PMID: 9621144
Rodríguez Díaz E, Fernández Blasco G, Martín Pascual A, Armijo M
Dermatology 1995;191(2):139-41. PMID: 8520061

Prognosis

Kolb-Mäurer A, Betz RC, Hamm H
JAMA Dermatol 2014 May;150(5):567-8. doi: 10.1001/jamadermatol.2013.8078. PMID: 24647624
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC
Am J Hum Genet 2013 Jan 10;92(1):81-7. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.022. [Epub ahead of print] PMID: 23246290Free PMC Article
Nahum S, Morice-Picard F, Taieb A, Sprecher E
Clin Exp Dermatol 2011 Mar;36(2):188-94. Epub 2010 Nov 10 doi: 10.1111/j.1365-2230.2010.03944.x. [Epub ahead of print] PMID: 21070332
Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G
FASEB J 2010 Sep;24(9):3416-26. Epub 2010 May 6 doi: 10.1096/fj.10-155622. [Epub ahead of print] PMID: 20448140

Clinical prediction guides

Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC
Am J Hum Genet 2013 Jan 10;92(1):81-7. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.022. [Epub ahead of print] PMID: 23246290Free PMC Article
Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J
Hum Mutat 2011 Jul;32(7):710-4. Epub 2011 Apr 26 doi: 10.1002/humu.21503. [Epub ahead of print] PMID: 21412954
Xu C, Zhang L, Chen N, Su B, Pan CM, Li JY, Zhang GW, Liu Z, Sheng Y, Song HD
J Cutan Pathol 2010 Jul;37(7):758-63. Epub 2009 Sep 14 doi: 10.1111/j.1600-0560.2009.01415.x. [Epub ahead of print] PMID: 19751230
Pasternack SM, von Kügelgen I, Müller M, Oji V, Traupe H, Sprecher E, Nöthen MM, Janecke AR, Betz RC
J Invest Dermatol 2009 Dec;129(12):2772-6. Epub 2009 Jun 18 doi: 10.1038/jid.2009.154. [Epub ahead of print] PMID: 19536142
Baumer A, Belli S, Trüeb RM, Schinzel A
Eur J Hum Genet 2000 Jun;8(6):443-8. doi: 10.1038/sj.ejhg.5200506. PMID: 10878665

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