U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Wooly hair, autosomal recessive 3(ARWH3)

MedGen UID:
902275
•Concept ID:
C4225214
•
Disease or Syndrome
Synonyms: Woolly hair, autosomal recessive 3; WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS
 
Gene (location): KRT25 (17q21.2)
 
Monarch Initiative: MONDO:0014765
OMIM®: 616760

Definition

Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene. [from MONDO]

Clinical features

From HPO
Sparse scalp hair
MedGen UID:
346499
•Concept ID:
C1857042
•
Finding
Decreased number of hairs per unit area of skin of the scalp.
See: Feature record | Search on this feature
Trichorrhexis nodosa
MedGen UID:
82668
•Concept ID:
C0263485
•
Disease or Syndrome
Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
See: Feature record | Search on this feature
Fine hair
MedGen UID:
98401
•Concept ID:
C0423867
•
Finding
Hair that is fine or thin to the touch.
See: Feature record | Search on this feature
Curly hair
MedGen UID:
488919
•Concept ID:
C0558165
•
Finding
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
Sparse hair
MedGen UID:
1790211
•Concept ID:
C5551005
•
Finding
Reduced density of hairs.
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
Tanahashi K, Sugiura K, Kono M, Takama H, Hamajima N, Akiyama M
PLoS One 2014;9(2):e89261. Epub 2014 Feb 19 doi: 10.1371/journal.pone.0089261. PMID: 24586639Free PMC Article
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.
Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P
J Am Coll Cardiol 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735-1097(01)01568-6. PMID: 11691526

Recent clinical studies

Etiology

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.
Akiyama M
J Eur Acad Dermatol Venereol 2021 Sep;35(9):1788-1796. Epub 2021 Jun 4 doi: 10.1111/jdv.17350. PMID: 33988877
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Schlaweck AE, Tazi-Ahnini R, Ü Basmanav FB, Mohungoo J, Pasternack-Ziach SM, Mattheisen M, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC
PLoS One 2019;14(12):e0225943. Epub 2019 Dec 2 doi: 10.1371/journal.pone.0225943. PMID: 31790498Free PMC Article
A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC
PLoS One 2015;10(6):e0129811. Epub 2015 Jun 26 doi: 10.1371/journal.pone.0129811. PMID: 26115030Free PMC Article
Genetics of human isolated hereditary hair loss disorders.
Basit S, Khan S, Ahmad W
Clin Genet 2015 Sep;88(3):203-12. Epub 2014 Nov 22 doi: 10.1111/cge.12531. PMID: 25350920
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
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

Diagnosis

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.
Santos-Ferreira C, Baptista R, Teixeira T, Gonçalves L
BMC Cardiovasc Disord 2022 Feb 12;22(1):41. doi: 10.1186/s12872-022-02472-5. PMID: 35151254Free PMC Article
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Schlaweck AE, Tazi-Ahnini R, Ü Basmanav FB, Mohungoo J, Pasternack-Ziach SM, Mattheisen M, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC
PLoS One 2019;14(12):e0225943. Epub 2019 Dec 2 doi: 10.1371/journal.pone.0225943. PMID: 31790498Free PMC Article
A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC
PLoS One 2015;10(6):e0129811. Epub 2015 Jun 26 doi: 10.1371/journal.pone.0129811. PMID: 26115030Free PMC Article
Genetics of human isolated hereditary hair loss disorders.
Basit S, Khan S, Ahmad W
Clin Genet 2015 Sep;88(3):203-12. Epub 2014 Nov 22 doi: 10.1111/cge.12531. PMID: 25350920
Syndromic (phenotypic) diarrhea in early infancy.
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP
Orphanet J Rare Dis 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. PMID: 18304370Free PMC Article

Prognosis

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.
Santos-Ferreira C, Baptista R, Teixeira T, Gonçalves L
BMC Cardiovasc Disord 2022 Feb 12;22(1):41. doi: 10.1186/s12872-022-02472-5. PMID: 35151254Free PMC Article
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
Kinnear C, Glanzmann B, Banda E, Schlechter N, Durrheim G, Neethling A, Nel E, Schoeman M, Johnson G, van Helden PD, Hoal EG, Esser M, Urban M, Möller M
BMC Med Genet 2017 Mar 14;18(1):26. doi: 10.1186/s12881-017-0388-5. PMID: 28292286Free PMC Article
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
Herbert Pratt C, Potter CS, Fairfield H, Reinholdt LG, Bergstrom DE, Harris BS, Greenstein I, Dadras SS, Liang BT, Schofield PN, Sundberg JP
Exp Mol Pathol 2015 Apr;98(2):164-72. Epub 2015 Feb 7 doi: 10.1016/j.yexmp.2015.01.015. PMID: 25659760Free PMC Article
Syndromic (phenotypic) diarrhea in early infancy.
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP
Orphanet J Rare Dis 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. PMID: 18304370Free PMC Article
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.
Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P
J Am Coll Cardiol 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735-1097(01)01568-6. PMID: 11691526

Clinical prediction guides

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Schlaweck AE, Tazi-Ahnini R, Ü Basmanav FB, Mohungoo J, Pasternack-Ziach SM, Mattheisen M, Oprisoreanu AM, Humbatova A, Wolf S, Messenger A, Betz RC
PLoS One 2019;14(12):e0225943. Epub 2019 Dec 2 doi: 10.1371/journal.pone.0225943. PMID: 31790498Free PMC Article
A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC
PLoS One 2015;10(6):e0129811. Epub 2015 Jun 26 doi: 10.1371/journal.pone.0129811. PMID: 26115030Free PMC Article
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
Herbert Pratt C, Potter CS, Fairfield H, Reinholdt LG, Bergstrom DE, Harris BS, Greenstein I, Dadras SS, Liang BT, Schofield PN, Sundberg JP
Exp Mol Pathol 2015 Apr;98(2):164-72. Epub 2015 Feb 7 doi: 10.1016/j.yexmp.2015.01.015. PMID: 25659760Free PMC Article
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
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
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.
Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P
J Am Coll Cardiol 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735-1097(01)01568-6. PMID: 11691526

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    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
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...