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GlossaryAutosomal Dominant Inheritance

one mutated gene from either parent can cause a trait

Autosomal Dominant Inheritance is a pattern of genetic transmission where only one copy of a mutated gene from either parent is sufficient to cause a particular trait or disorder. This means that if one parent carries the dominant gene, there is a 50% chance that their child will inherit the condition. This type of inheritance can be seen in conditions like certain forms of alopecia, where the presence of a single altered gene can lead to hair loss.

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research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants

6 citations, June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

research Topical Fluocinolone Acetonide Acetate Ointment in Autosomal Dominant Congenital Hypotrichosis

July 1996

A hair growth ointment improved hair length in a family with a genetic hair growth condition.

research Androgenetic Alopecia: An Autosomal Dominant Disorder

80 citations, January 1995 in “The American Journal of Medicine”

Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.

research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region

39 citations, July 1997 in “American Journal of Medical Genetics”

research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome

71 citations, February 2012 in “The American Journal of Human Genetics”

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome

20 citations, May 2013 in “International Journal of Molecular Medicine”

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

research A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance

15 citations, June 2012 in “British Journal of Dermatology”

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

research A Nonsense Variant In KRT31 Is Associated With Autosomal-Dominant Monilethrix

July 2024 in “British journal of dermatology/British journal of dermatology, Supplement”

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

34 citations, July 2020 in “American journal of human genetics”

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families

5 citations, February 2022 in “Molecular genetics & genomic medicine”

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children

55 citations, October 1992 in “Archives of Dermatology”

Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.

research Congenital Hypotrichosis Due to Short Anagen Phase

42 citations, September 2000 in “British Journal of Dermatology”

Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.

research Eruptive Vellus Hair Cysts: A Systematic Review

41 citations, October 2011 in “American journal of clinical dermatology”

Eruptive vellus hair cysts are a cosmetic skin condition, more common in young adults, with few effective treatments.

research Familial Nonmembranous Aplasia Cutis of the Scalp

30 citations, May 2005 in “Pediatric dermatology”

Some families have a genetic condition where they are born with irregular scalp defects.

research Loose Anagen Syndrome And Loose Anagen Hair

25 citations, October 1996 in “Dermatologic Clinics”

Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.

research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis

20 citations, July 2013 in “European Journal of Oral Sciences”

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

research Pseudopelade: An Inherited Alopecia

19 citations, October 1996 in “International Journal of Dermatology”

Pseudopelade is a rare inherited hair loss condition with a genetic cause.

research Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature

12 citations, March 2011 in “Pediatric dermatology”

An 18-year-old girl was diagnosed with a rare hereditary hair loss condition, despite no family history.

research Monilethrix: A Rare Hereditary Condition

12 citations, January 2013 in “Indian Journal of Dermatology”

Monilethrix is a rare genetic hair disorder that's hard to treat.

research Short Anagen Hair Syndrome

11 citations, January 2013 in “International Journal of Trichology”

Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.

Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

research Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

8 citations, December 2020 in “Scientific reports”

Selective breeding caused the unique curly hair in Mangalitza pigs.

research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis

6 citations, January 2013 in “The Journal of Dermatology”

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

research Monilethrix

6 citations, August 2012 in “The Journal of Pediatrics”

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

research Acquired Uncombable Hair Syndrome in a 39-Year-Old Woman

6 citations, August 1993 in “Archives of Dermatology”

A woman's hair changed to a dry, tangled texture that's hard to comb after treatment with spironolactone, suggesting the medication might cause such hair changes.

research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity

5 citations, September 1986 in “Pediatric Dermatology”

A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.

research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia

5 citations, April 1984 in “Archives of Dermatology”

Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.

research Marie-Unna Hereditary Hypotrichosis

4 citations, January 2014 in “International Journal of Trichology”

A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.

research Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis

3 citations, March 2019 in “European Journal of Dermatology”

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

research Alopecia in a 19-Month-Old Boy

2 citations, August 1994 in “Archives of dermatology”

A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.

research Inherited Disorders of the Hair

2 citations, January 2013 in “Elsevier eBooks”

The document explains the genetic causes and characteristics of inherited hair disorders.