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    Glossary Autosomal Recessive Disorder

    An autosomal recessive disorder is a genetic condition that occurs when an individual inherits two copies of a mutated gene, one from each parent, affecting the function of specific proteins or biological pathways. In the context of hair loss, certain autosomal recessive disorders can lead to conditions such as hypotrichosis or other forms of alopecia, where hair growth is significantly impaired or absent. Key distinguishing characteristics include the requirement of both alleles to be mutated for the disorder to manifest, and the potential for carriers (individuals with one mutated allele) to be asymptomatic. Understanding these disorders is crucial for diagnosing hereditary hair loss conditions and exploring potential genetic therapies.

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    1. Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient Journal of dermatology · 2013 · 2 citations
    2. Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis Journal of dermatology · 2020 · 1 citations
    3. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    4. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    5. Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the <i>LIPH</i> gene at c.742C > A and c.614A > G: The first Japanese case Journal of dermatology · 2023
    6. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family 2007 · 25 citations
    7. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    8. Disorders of Keratinization 2014
    9. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    10. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    11. Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation] The Mouseion at the JAXlibrary (Jackson Laboratory) · 2000
    12. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    13. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    14. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    15. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    16. Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature Jaypee's international journal of clinical pediatric dentistry · 2018 · 11 citations
    17. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    18. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    19. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    20. Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report Journal of Chittagong Medical College Teachers Association · 2026
    21. Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review Clinical and Experimental Pediatrics · 2025
    22. A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions IP Indian journal of clinical and experimental dermatology · 2022
    23. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    24. The medusa head: Dermoscopic diagnosis of woolly hair syndrome International Journal of Trichology · 2012 · 7 citations
    25. Monilethrix International Journal of Trichology · 2013 · 4 citations
    26. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    27. Clinical report of a Holstein's calf with ichthyosis. Veterinary research forum · 2021
    28. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    29. Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families Molecular genetics & genomic medicine · 2022 · 5 citations
    30. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023