ectodermal dysplasia 10A

Ectodermal dysplasia 10A (ECTD10A) is a rare genetic disorder characterized by abnormal development in two or more ectodermal structures, including hair, nails, teeth, and sweat glands. It is caused by heterozygous mutations in the WNT10A gene.

Key Features:

• Hypohidrotic/hair/nail type autosomal dominant inheritance pattern
• Abnormal development of ectodermal structures, such as:
  • Sparse or absent hair (hypotrichosis)
  • Abnormal or missing teeth (odontodysplasia)
  • Nail abnormalities
  • Reduced ability to sweat (hypohidrosis)

Genetic Information:

• ECTD10A is caused by mutations in the WNT10A gene, which plays a critical role in development starting before birth.
• The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

References:

• Search result 2 mentions ECTD10A as a clinical resource with information about its clinical features and genetic tests available from US labs around the world.
• Search result 11 explains more about the WNT10A gene and how it manifests into three different types of ectodermal dysplasias, including ECTD10A.

Note: The above description is based on the provided search results and may not be an exhaustive or definitive summary of ECTD10A.

Ectodermal dysplasias are a group of rare genetic disorders that affect the development of tissues derived from the ectoderm, which is one of the three primary layers of cells in an embryo. The WNT10A gene mutations can cause different types of ectodermal dysplasias.

Common Signs and Symptoms:

• Hypotrichosis (sparse or thinning hair on the scalp and body)
• Hypohidrosis (reduced ability to sweat), leading to episodes of hyperthermia
• Dryness of the skin, eyes, airways, and mucous membranes due to defective development of several tissues
• Sparse or coarse hair, depending on the type of ectodermal dysplasia
• Abnormal or missing teeth
• Decreased or absent sudation (sweating)

Specific Signs and Symptoms:

• Hypohidrotic ectodermal dysplasia (HED): sparse and fine hair, reduced sweating, and typical facial features.
• Ectrodactyly-ectodermal dysplasia-clefting syndrome: coarse hair, abnormal teeth, and cleft lip or palate.
• Schopf-Schulz-Passarge syndrome: sparse and fine hair, abnormal teeth, and characteristic facial features.

Other Signs and Symptoms:

• Tooth agenesis (missing teeth) without other signs and symptoms of ectodermal dysplasia
• Dryness of the skin, eyes, airways, and mucous membranes

It's essential to note that the age of onset for these symptoms can vary depending on the type of ectodermal dysplasia. Some may start appearing at birth or in infancy, while others may begin later in life.

References: [2], [3], [7], [9]

Ectodermal dysplasia 10A, also known as hypohidrotic/hair/nail type autosomal dominant, is a genetic disorder that affects the development of ectodermal tissues. Diagnostic tests for this condition are crucial in confirming a diagnosis and providing accurate information for patients and their families.

Genetic Analysis

According to search result [3], genetic analysis is recommended for individuals with a personal and/or family history of ectodermal dysplasia 10A. This type of testing can provide a molecular diagnosis of the disorder, ensuring that an accurate diagnosis is made.

Clinical Genetic Tests

Several clinical genetic tests are available for diagnosing ectodermal dysplasia 10A. These include:

• Fulgent Genetics: Offers a Clinical Genetic Test for conditions (7), including hypohidrotic X-linked ectodermal dysplasia and ectodermal dysplasia 10A [3].
• MedGene: Provides a Clinical Molecular Genetics test for Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant using Deletion/duplication analysis, Multiplex Ligation-dependent Probe Amplification (MLPA) [9][10].
• HNL Genomics Connective Tissue Gene Tests: Offers a Clinical Molecular Genetics test for Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) [11].

Other Diagnostic Tests

In addition to genetic testing, other diagnostic tests may be used to confirm a diagnosis of ectodermal dysplasia 10A. These include:

• Physical examination: A physical exam can help identify symptoms such as sparse hair, abnormal or missing teeth, and inability to sweat.
• Family history: A family history of ectodermal dysplasia 10A can also be an important factor in diagnosing the condition.

Genetic Testing for Ectodermal Dysplasias

According to search result [13], genetic testing can confirm a diagnosis of a subtype of ectodermal dysplasia, including ectodermal dysplasia 10A. There are over 100 subtypes of ectodermal dysplasia caused by many different genetic changes.

GeneTests Resource

Search result [14] mentions GeneTests as an online resource that identifies genetic tests for various conditions, including ectodermal dysplasias. This resource can be helpful in finding the most up-to-date and accurate information on diagnostic testing for ectodermal dysplasia 10A.

In conclusion, diagnostic tests for ectodermal dysplasia 10A include genetic analysis, clinical genetic tests, physical examination, family history, and other diagnostic tests. Genetic testing is a crucial tool in confirming a diagnosis of this condition and providing accurate information for patients and their families.

Ectodermal Dysplasia 10A (ED10A) Drug Treatment

Ectodermal dysplasia 10A, also known as hypohidrotic/hair/nail type autosomal dominant, is a rare genetic disorder that affects the development of ectodermal tissues. While there are no specific treatments available for ED10A, researchers have been exploring various therapeutic options to manage its symptoms.

Current Research and Developments

Recent studies have focused on developing drugs targeting the neonatal Fc receptor (FcRn) to treat X-linked hypohidrotic ectodermal dysplasia (XLHED), a related condition. This approach has shown promise in treating XLHED, but its effectiveness for ED10A is still being investigated.

• EDI200: A new drug currently under development, EDI200, is expected to be administered postnatally between days 2 and 14 of life in male patients diagnosed with X-linked ectodermal dysplasia. This treatment involves five injections, each containing 3 mg/kg of the human ectodysplasin A molecule.
• Gene defect: The gene defect responsible for ED10A implicates a death domain adapter in development. Researchers are exploring ways to target this genetic mutation to develop effective treatments.

Therapeutic Perspectives

While there is no specific drug treatment available for ED10A, the development of new therapies targeting the neonatal Fc receptor and other related conditions offers hope for future treatments. Consult with a healthcare professional for medical advice and treatment options.

References:

• [1] It's mentioned in point 12 that "Integrated disease information for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources"
• [2] Point 13 mentions "Clinical resource with information about Ectodermal dysplasia 10A hypohidrotic/hair/nail type autosomal dominant and its clinical features, EDAR, EDARADD, ..."

Ectodermal dysplasias (EDs) are a group of genetic disorders that affect the development of tissues derived from embryonic ectoderm, such as skin, hair, teeth, nails, and sweat glands. Ectodermal dysplasia 10A is one of the subtypes of EDs.

When it comes to differential diagnosis of ectodermal dysplasia 10A, several conditions need to be considered:

• Hypohidrotic ectodermal dysplasia (HED): This condition is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood [14].
• Odonto-onycho-dermal dysplasia: This is another subtype of ED that affects the development of teeth, nails, and skin. It can present with similar symptoms to ectodermal dysplasia 10A.
• Certain forms of ichthyosis: Ichthyosis refers to a group of skin disorders characterized by dry, scaly, or thickened skin. Some forms of ichthyosis may be mistaken for ectodermal dysplasia 10A due to similar symptoms.

To confirm the diagnosis of ectodermal dysplasia 10A, genetic testing is essential [6]. This involves analyzing the patient's DNA to identify specific mutations in the WNT10A gene that are associated with this condition.

It's worth noting that differential diagnoses for ectodermal dysplasias can be complex and require a comprehensive evaluation of clinical features, family history, and genetic testing. A multidisciplinary team of healthcare professionals, including dermatologists, geneticists, and other specialists, may be necessary to accurately diagnose and manage these conditions.

References:

[6] - Diagnosis is confirmed by genetic testing. Differential diagnoses include other types of ED like odonto-onycho-dermal dysplasia and certain forms of ichthyosis ... [14] - Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood.