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Did you mean Genotype-Phenotype Correlations?

GlossaryGenotype-Phenotype Correlations

relationship between genes and observable traits

Genotype-Phenotype Correlations refer to the relationship between an individual's genetic makeup (genotype) and their observable traits (phenotype). For example, in the context of hair, certain genotypes might be linked to traits like hair color, texture, or susceptibility to conditions like alopecia. Understanding these correlations helps scientists predict how genetic variations can manifest as physical characteristics or health conditions.

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Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

11 citations, January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

research 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review

39 citations, April 2018 in “Hormones”

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands

4 citations, January 2017 in “Acta dermato-venereologica”

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

research Clouston Syndrome: A Complete Genotype–Phenotype Correlation After Four Decades And Six Generations

September 2022 in “Indian Journal of Paediatric Dermatology”

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia

35 citations, April 2014 in “American Journal of Medical Genetics”

Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

15 citations, February 2014 in “PloS one”

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.

research Uncombable Hair Syndrome and Beyond

January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)”

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

research Molecular–Clinical Correlations in a Family with Variable Tissue Mitochondrial DNA T8993G Mutant Load

35 citations, August 2006 in “Molecular genetics and metabolism”

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia

1 citations, November 2017 in “Expert opinion on orphan drugs”

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

research Disorders of Keratinization

44 citations, January 2004 in “American journal of clinical dermatology”

Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.

research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity

January 2025 in “Clinical Cosmetic and Investigational Dermatology”

Genetic testing is crucial for diagnosing rare hair loss disorders.

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 Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)

8 citations, May 2022 in “Orphanet Journal of Rare Diseases”

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

research Detection of Mutations in the CYP21A2 Gene: Genotype-Phenotype Correlation in Slovenian Couples with Conceiving Problems

1 citations, December 2015 in “Balkan Journal of Medical Genetics”

Genetic screening can help diagnose and manage infertility in Slovenian couples.

Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

September 2016 in “Journal of Dermatological Science”

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene

December 2023 in “JCEM case reports”

A new gene variant causes glucocorticoid resistance in a mother and son.

research Phenotypic Heterogeneity of Epidermolysis Bullosa Associated With the Recurrent Pathogenic Variant p.(Arg2000Trp) in Plectin

April 2023 in “Journal of Investigative Dermatology”

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa

October 2023 in “Pediatric dermatology”

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

research MTHFR C677T Polymorphism and Serum Homocysteine Level as Risk Factors of Coronary Heart Disease in Patients with Androgenetic Alopecia: A Case-Control Study

June 2021 in “The American Journal of the Medical Sciences”

Androgenetic alopecia is linked to a higher risk of coronary heart disease due to certain genetic factors and high homocysteine levels.

research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

23 citations, November 2001 in “Archives of Dermatology”

Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.

CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

research CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

14 citations, January 2013 in “Hormone and Metabolic Research”

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

8 citations, October 2019 in “Immunological investigations”

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

research Availability of mRNA from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa

November 2022 in “Journal of Investigative Dermatology”

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

research Hair Growth Promoting Effects of Adipose Tissue-Derived Stem Cells

81 citations, December 2009 in “Journal of Dermatological Science”

Fat tissue stem cells may help increase hair growth.

research Hair Follicle-Related MicroRNA-34a Serum Expression and rs2666433A/G Variant in Patients with Alopecia: A Cross-Sectional Analysis

3 citations, April 2022 in “Biomolecules”

Higher miR-34a levels and the A variant of the MIR-34A gene are linked to increased risk and severity of alopecia areata.

research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

98 citations, March 2019 in “Frontiers in immunology”

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene

9 citations, May 2014 in “BMC medical genetics”

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies

October 2023 in “Journal of dermatological science”

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

research Recently Identified Forms of Epidermolysis Bullosa

39 citations, January 2015 in “Annals of dermatology/Annals of Dermatology”

Three new types of a skin blistering disease were found, caused by specific gene mutations.

research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

9 citations, June 2017 in “American journal of ophthalmology. Case reports”

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.