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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): Gene(s) directly associated with this condition or phenotype.	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

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Abnormality of head or neck
- Sparse scalp hair
Abnormality of the integument

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: 24586639 Free 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

See all (2)

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: 31790498 Free 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: 26115030 Free 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: 24714551 Free PMC Article

See all (5)

Diagnosis

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

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: 28292286 Free 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: 26115030 Free 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: 18304370 Free PMC Article

See all (7)

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: 35151254 Free 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: 25659760 Free PMC Article

Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair.

Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S, Zlotogorski A
J Med Genet 2014 Jun;51(6):388-94. Epub 2014 Mar 26 doi: 10.1136/jmedgenet-2014-102346. PMID: 24671081

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: 18304370 Free PMC Article

Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.

See all (6)

Clinical prediction guides

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

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: 26115030 Free PMC Article

Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.

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: 24714551 Free PMC Article

Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.

See all (8)

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Links from Gene

Wooly hair, autosomal recessive 3(ARWH3)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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Genetic Testing Registry

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