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Hypotrichosis 13(HYPT13)

MedGen UID:
863053
•Concept ID:
C4014616
•
Disease or Syndrome
Synonyms: HYPOTRICHOSIS WITH WOOLLY HAIR; HYPT13
 
Gene (location): KRT71 (12q13.13)
 
Monarch Initiative: MONDO:0014390
OMIM®: 615896

Definition

Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene. [from MONDO]

Clinical features

From HPO
Abnormal dental morphology
MedGen UID:
11849
•Concept ID:
C0040427
•
Anatomical Abnormality
An abnormality of the morphology of the tooth.
See: Feature record | Search on this feature
Abnormal sweat gland morphology
MedGen UID:
892310
•Concept ID:
C0262643
•
Anatomical Abnormality
Any structural abnormality of the sweat gland.
See: Feature record | Search on this feature
Wooly hair
MedGen UID:
87469
•Concept ID:
C0343073
•
Finding
The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
See: Feature record | Search on this feature
Sparse eyelashes
MedGen UID:
375151
•Concept ID:
C1843300
•
Finding
Decreased density/number of eyelashes.
See: Feature record | Search on this feature
Abnormal skin morphology
MedGen UID:
869110
•Concept ID:
C4023528
•
Anatomical Abnormality
Any morphological abnormality of the skin.
See: Feature record | Search on this feature
Sparse hair
MedGen UID:
1790211
•Concept ID:
C5551005
•
Finding
Reduced density of hairs.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Baricitinib for the Treatment of Alopecia Areata.
Freitas E, Guttman-Yassky E, Torres T
Drugs 2023 Jun;83(9):761-770. Epub 2023 May 17 doi: 10.1007/s40265-023-01873-w. PMID: 37195491Free PMC Article
Clinical observation and evaluation of CGF in the treatment of androgenic alopecia.
Zhao F, Hao L, Jin X
J Cosmet Dermatol 2022 Nov;21(11):5723-5729. Epub 2022 Jun 4 doi: 10.1111/jocd.15109. PMID: 35608516
Therapeutic management in paediatric alopecia areata: A systematic review.
Waśkiel-Burnat A, Kołodziejak M, Sikora M, Stochmal A, Rakowska A, Olszewska M, Rudnicka L
J Eur Acad Dermatol Venereol 2021 Jun;35(6):1299-1308. doi: 10.1111/jdv.17187. PMID: 33630354

Recent clinical studies

Etiology

Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b-3 trial.
King B, Zhang X, Harcha WG, Szepietowski JC, Shapiro J, Lynde C, Mesinkovska NA, Zwillich SH, Napatalung L, Wajsbrot D, Fayyad R, Freyman A, Mitra D, Purohit V, Sinclair R, Wolk R
Lancet 2023 May 6;401(10387):1518-1529. Epub 2023 Apr 14 doi: 10.1016/S0140-6736(23)00222-2. PMID: 37062298
Safety of low-dose oral minoxidil for hair loss: A multicenter study of 1404 patients.
Vañó-Galván S, Pirmez R, Hermosa-Gelbard A, Moreno-Arrones ÓM, Saceda-Corralo D, Rodrigues-Barata R, Jimenez-Cauhe J, Koh WL, Poa JE, Jerjen R, Trindade de Carvalho L, John JM, Salas-Callo CI, Vincenzi C, Yin L, Lo-Sicco K, Waskiel-Burnat A, Starace M, Zamorano JL, Jaén-Olasolo P, Piraccini BM, Rudnicka L, Shapiro J, Tosti A, Sinclair R, Bhoyrul B
J Am Acad Dermatol 2021 Jun;84(6):1644-1651. Epub 2021 Feb 24 doi: 10.1016/j.jaad.2021.02.054. PMID: 33639244
Open-label, Multicenter, Phase II Study of RC48-ADC, a HER2-Targeting Antibody-Drug Conjugate, in Patients with Locally Advanced or Metastatic Urothelial Carcinoma.
Sheng X, Yan X, Wang L, Shi Y, Yao X, Luo H, Shi B, Liu J, He Z, Yu G, Ying J, Han W, Hu C, Ling Y, Chi Z, Cui C, Si L, Fang J, Zhou A, Guo J
Clin Cancer Res 2021 Jan 1;27(1):43-51. Epub 2020 Oct 27 doi: 10.1158/1078-0432.CCR-20-2488. PMID: 33109737
Interventions for female pattern hair loss.
van Zuuren EJ, Fedorowicz Z, Schoones J
Cochrane Database Syst Rev 2016 May 26;2016(5):CD007628. doi: 10.1002/14651858.CD007628.pub4. PMID: 27225981Free PMC Article
A randomized, active- and placebo-controlled study of the efficacy and safety of different doses of dutasteride versus placebo and finasteride in the treatment of male subjects with androgenetic alopecia.
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. PMID: 24411083

Diagnosis

Commonly prescribed medications associated with alopecia.
Mounessa J, Caravaglio JV, Domozych R, Chapman S, Dellavalle RP, Dunnick CA, Norris D
J Am Acad Dermatol 2023 Jun;88(6):1326-1337.e2. doi: 10.1016/j.jaad.2017.01.060. PMID: 37268392
Granzyme B in Autoimmune Skin Disease.
Gleave A, Granville DJ
Biomolecules 2023 Feb 18;13(2) doi: 10.3390/biom13020388. PMID: 36830757Free PMC Article
Association between genetically predicted leukocyte telomere length and non-scarring alopecia: A two-sample Mendelian randomization study.
Li Y, Yang S, Liao M, Zheng Z, Li M, Wei X, Liu M, Yang L
Front Immunol 2022;13:1072573. Epub 2023 Jan 30 doi: 10.3389/fimmu.2022.1072573. PMID: 36798520Free PMC Article
Open-label, Multicenter, Phase II Study of RC48-ADC, a HER2-Targeting Antibody-Drug Conjugate, in Patients with Locally Advanced or Metastatic Urothelial Carcinoma.
Sheng X, Yan X, Wang L, Shi Y, Yao X, Luo H, Shi B, Liu J, He Z, Yu G, Ying J, Han W, Hu C, Ling Y, Chi Z, Cui C, Si L, Fang J, Zhou A, Guo J
Clin Cancer Res 2021 Jan 1;27(1):43-51. Epub 2020 Oct 27 doi: 10.1158/1078-0432.CCR-20-2488. PMID: 33109737
A randomized, active- and placebo-controlled study of the efficacy and safety of different doses of dutasteride versus placebo and finasteride in the treatment of male subjects with androgenetic alopecia.
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. PMID: 24411083

Therapy

Baricitinib for the Treatment of Alopecia Areata.
Freitas E, Guttman-Yassky E, Torres T
Drugs 2023 Jun;83(9):761-770. Epub 2023 May 17 doi: 10.1007/s40265-023-01873-w. PMID: 37195491Free PMC Article
Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b-3 trial.
King B, Zhang X, Harcha WG, Szepietowski JC, Shapiro J, Lynde C, Mesinkovska NA, Zwillich SH, Napatalung L, Wajsbrot D, Fayyad R, Freyman A, Mitra D, Purohit V, Sinclair R, Wolk R
Lancet 2023 May 6;401(10387):1518-1529. Epub 2023 Apr 14 doi: 10.1016/S0140-6736(23)00222-2. PMID: 37062298
Safety of low-dose oral minoxidil for hair loss: A multicenter study of 1404 patients.
Vañó-Galván S, Pirmez R, Hermosa-Gelbard A, Moreno-Arrones ÓM, Saceda-Corralo D, Rodrigues-Barata R, Jimenez-Cauhe J, Koh WL, Poa JE, Jerjen R, Trindade de Carvalho L, John JM, Salas-Callo CI, Vincenzi C, Yin L, Lo-Sicco K, Waskiel-Burnat A, Starace M, Zamorano JL, Jaén-Olasolo P, Piraccini BM, Rudnicka L, Shapiro J, Tosti A, Sinclair R, Bhoyrul B
J Am Acad Dermatol 2021 Jun;84(6):1644-1651. Epub 2021 Feb 24 doi: 10.1016/j.jaad.2021.02.054. PMID: 33639244
Common questions and misconceptions about creatine supplementation: what does the scientific evidence really show?
Antonio J, Candow DG, Forbes SC, Gualano B, Jagim AR, Kreider RB, Rawson ES, Smith-Ryan AE, VanDusseldorp TA, Willoughby DS, Ziegenfuss TN
J Int Soc Sports Nutr 2021 Feb 8;18(1):13. doi: 10.1186/s12970-021-00412-w. PMID: 33557850Free PMC Article
Interventions for female pattern hair loss.
van Zuuren EJ, Fedorowicz Z, Schoones J
Cochrane Database Syst Rev 2016 May 26;2016(5):CD007628. doi: 10.1002/14651858.CD007628.pub4. PMID: 27225981Free PMC Article

Prognosis

Granzyme B in Autoimmune Skin Disease.
Gleave A, Granville DJ
Biomolecules 2023 Feb 18;13(2) doi: 10.3390/biom13020388. PMID: 36830757Free PMC Article
Association between genetically predicted leukocyte telomere length and non-scarring alopecia: A two-sample Mendelian randomization study.
Li Y, Yang S, Liao M, Zheng Z, Li M, Wei X, Liu M, Yang L
Front Immunol 2022;13:1072573. Epub 2023 Jan 30 doi: 10.3389/fimmu.2022.1072573. PMID: 36798520Free PMC Article
Open-label, Multicenter, Phase II Study of RC48-ADC, a HER2-Targeting Antibody-Drug Conjugate, in Patients with Locally Advanced or Metastatic Urothelial Carcinoma.
Sheng X, Yan X, Wang L, Shi Y, Yao X, Luo H, Shi B, Liu J, He Z, Yu G, Ying J, Han W, Hu C, Ling Y, Chi Z, Cui C, Si L, Fang J, Zhou A, Guo J
Clin Cancer Res 2021 Jan 1;27(1):43-51. Epub 2020 Oct 27 doi: 10.1158/1078-0432.CCR-20-2488. PMID: 33109737
Epidemiology of alopecia areata, ophiasis, totalis, and universalis: A systematic review and meta-analysis.
Lee HH, Gwillim E, Patel KR, Hua T, Rastogi S, Ibler E, Silverberg JI
J Am Acad Dermatol 2020 Mar;82(3):675-682. Epub 2019 Aug 19 doi: 10.1016/j.jaad.2019.08.032. PMID: 31437543
A randomized, active- and placebo-controlled study of the efficacy and safety of different doses of dutasteride versus placebo and finasteride in the treatment of male subjects with androgenetic alopecia.
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. PMID: 24411083

Clinical prediction guides

Treatments for alopecia areata: a network meta-analysis.
Mateos-Haro M, Novoa-Candia M, Sánchez Vanegas G, Correa-Pérez A, Gaetano Gil A, Fernández-García S, Ortega-Quijano D, Urueña Rodriguez MG, Saceda-Corralo D, Bennouna-Dalero T, Giraldo L, Tomlinson J, Vaño-Galván S, Zamora J
Cochrane Database Syst Rev 2023 Oct 23;10(10):CD013719. doi: 10.1002/14651858.CD013719.pub2. PMID: 37870096Free PMC Article
Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b-3 trial.
King B, Zhang X, Harcha WG, Szepietowski JC, Shapiro J, Lynde C, Mesinkovska NA, Zwillich SH, Napatalung L, Wajsbrot D, Fayyad R, Freyman A, Mitra D, Purohit V, Sinclair R, Wolk R
Lancet 2023 May 6;401(10387):1518-1529. Epub 2023 Apr 14 doi: 10.1016/S0140-6736(23)00222-2. PMID: 37062298
Safety of low-dose oral minoxidil for hair loss: A multicenter study of 1404 patients.
Vañó-Galván S, Pirmez R, Hermosa-Gelbard A, Moreno-Arrones ÓM, Saceda-Corralo D, Rodrigues-Barata R, Jimenez-Cauhe J, Koh WL, Poa JE, Jerjen R, Trindade de Carvalho L, John JM, Salas-Callo CI, Vincenzi C, Yin L, Lo-Sicco K, Waskiel-Burnat A, Starace M, Zamorano JL, Jaén-Olasolo P, Piraccini BM, Rudnicka L, Shapiro J, Tosti A, Sinclair R, Bhoyrul B
J Am Acad Dermatol 2021 Jun;84(6):1644-1651. Epub 2021 Feb 24 doi: 10.1016/j.jaad.2021.02.054. PMID: 33639244
Open-label, Multicenter, Phase II Study of RC48-ADC, a HER2-Targeting Antibody-Drug Conjugate, in Patients with Locally Advanced or Metastatic Urothelial Carcinoma.
Sheng X, Yan X, Wang L, Shi Y, Yao X, Luo H, Shi B, Liu J, He Z, Yu G, Ying J, Han W, Hu C, Ling Y, Chi Z, Cui C, Si L, Fang J, Zhou A, Guo J
Clin Cancer Res 2021 Jan 1;27(1):43-51. Epub 2020 Oct 27 doi: 10.1158/1078-0432.CCR-20-2488. PMID: 33109737
Epidemiology of alopecia areata, ophiasis, totalis, and universalis: A systematic review and meta-analysis.
Lee HH, Gwillim E, Patel KR, Hua T, Rastogi S, Ibler E, Silverberg JI
J Am Acad Dermatol 2020 Mar;82(3):675-682. Epub 2019 Aug 19 doi: 10.1016/j.jaad.2019.08.032. PMID: 31437543

Recent systematic reviews

Treatments for alopecia areata: a network meta-analysis.
Mateos-Haro M, Novoa-Candia M, Sánchez Vanegas G, Correa-Pérez A, Gaetano Gil A, Fernández-García S, Ortega-Quijano D, Urueña Rodriguez MG, Saceda-Corralo D, Bennouna-Dalero T, Giraldo L, Tomlinson J, Vaño-Galván S, Zamora J
Cochrane Database Syst Rev 2023 Oct 23;10(10):CD013719. doi: 10.1002/14651858.CD013719.pub2. PMID: 37870096Free PMC Article
Therapeutic management in paediatric alopecia areata: A systematic review.
Waśkiel-Burnat A, Kołodziejak M, Sikora M, Stochmal A, Rakowska A, Olszewska M, Rudnicka L
J Eur Acad Dermatol Venereol 2021 Jun;35(6):1299-1308. doi: 10.1111/jdv.17187. PMID: 33630354
Epidemiology of alopecia areata, ophiasis, totalis, and universalis: A systematic review and meta-analysis.
Lee HH, Gwillim E, Patel KR, Hua T, Rastogi S, Ibler E, Silverberg JI
J Am Acad Dermatol 2020 Mar;82(3):675-682. Epub 2019 Aug 19 doi: 10.1016/j.jaad.2019.08.032. PMID: 31437543
The efficacy and safety of dutasteride compared with finasteride in treating men with androgenetic alopecia: a systematic review and meta-analysis.
Zhou Z, Song S, Gao Z, Wu J, Ma J, Cui Y
Clin Interv Aging 2019;14:399-406. Epub 2019 Feb 20 doi: 10.2147/CIA.S192435. PMID: 30863034Free PMC Article
Interventions for female pattern hair loss.
van Zuuren EJ, Fedorowicz Z, Schoones J
Cochrane Database Syst Rev 2016 May 26;2016(5):CD007628. doi: 10.1002/14651858.CD007628.pub4. PMID: 27225981Free PMC Article

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    Clinical resources

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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