peroxisome biogenesis disorder 14B

Peroxisome Biogenesis Disorder 14B (PBD14B) Description

PBD14B is a rare genetic disorder that affects the development and function of peroxisomes, which are organelles found in cells. The disorder is characterized by a range of clinical features, including:

• Mild Intellectual Disability: Individuals with PBD14B may experience mild intellectual disability, which can impact their cognitive abilities and daily functioning.
• Congenital Cataracts: This condition is associated with the presence of cataracts at birth or in early childhood.
• Progressive Hearing Loss: People with PBD14B often experience a gradual decline in hearing ability over time.
• Polyneuropathy: This refers to damage or disease affecting multiple nerves, which can lead to various symptoms such as numbness, weakness, and pain.

These clinical features are similar to those observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). PBD14B is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern and affects both males and females equally.

References:

• Ebberink et al. (2012) [1]
• Kelley et al. (1986) [2]
• Poll-The et al. (1987) [3]

Clinical Features of Peroxisome Biogenesis Disorder 14B

Peroxisome biogenesis disorder 14B (PBD14B) is a rare genetic disorder characterized by the absence or malfunctioning of peroxisomes, which are organelles responsible for various cellular functions. The clinical features of PBD14B can vary in severity and may include:

• Abnormality of limbs: Areflexia of lower limbs (1), indicating a lack of reflexes in the lower limbs.
• Abnormality of the eye: Developmental cataract, myopia, and nystagmus (2) are common eye-related issues associated with PBD14B.
• Abnormality of the genitourinary system (2): This may include various urinary tract problems.

Other Symptoms

In addition to these clinical features, individuals with PBD14B may also experience:

• Distinctive facial features: A flattened face, broad nasal bridge, high forehead, and other characteristic facial features are often observed in severe cases of Zellweger spectrum disorder (5), which is closely related to PBD14B.
• Intellectual disability: Some patients with PBD14B may have intellectual disabilities (7).
• Congenital cataracts: Cataracts present at birth can be a symptom of PBD14B (9).
• Sensorineural hearing loss: This is another possible symptom associated with PBDs, including PBD14B (8).

References

1. Clinical features; Abnormality of limbs. Areflexia of lower limbs; Abnormality of the eye. Developmental cataract; Myopia; Nystagmus; Rotary nystagmus ...
2. Clinical features · Abnormality of limbs. Areflexia of lower limbs · Abnormality of the eye. Developmental cataract · Abnormality of the genitourinary system.
3. A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD14B) is caused by homozygous mutation in the PEX11B gene ...
4. Clinical signs and symptoms observed in peroxisome biogenesis disorder 14B. Source: EFO, MONDO, HPO. ​.
5. Oct 12, 2021 — Severe Zellweger spectrum disorder involves distinctive facial features, including a flattened face, broad nasal bridge , high forehead, and ...
6. Oct 12, 2021 — The signs and symptoms of severe Zellweger spectrum disorder are due to the absence of functional peroxisomes within cells. Intermediate and ...
7. by S Khoddam · 2024 — The most common symptoms of this disorder are intellectual disability, congenital cataracts, strabismus, and polyneuropathy. Additionally, some patients have ...
8. PBDs are autosomal recessive disorders affecting peroxisome formation, leading to various symptoms like sensorineural hearing loss, retinal degeneration, organ ...
9. by Y Tian · 2020 · Cited by 16 — PBD14B is an autosomal recessive peroxisome biosynthesis disorder characterized by the absence or malfunctioning of peroxisomes, which can lead to various clinical features and symptoms.

Based on the provided context, it appears that diagnostic tests for peroxisome biogenesis disorder 14B (PBD14B) are available.

According to search result [10], Clinical Molecular Genetics test for Peroxisome biogenesis disorder 14B is offered by CGC Genetics. This test uses Sequence analysis of the entire coding region and Bi-directional Sanger Sequence Analysis.

Additionally, search result [11] mentions that laboratory testing for the diagnosis and management of peroxisomal disorders, including PBD14B, can be performed by various laboratories as a fee-for-service.

It's also worth noting that search result [13] lists authors who direct laboratories that perform laboratory testing for the diagnosis and management of peroxisomal disorders, which may include PBD14B.

Therefore, diagnostic tests for peroxisome biogenesis disorder 14B are available through Clinical Molecular Genetics test offered by CGC Genetics and other laboratories that provide fee-for-service testing.

Current Status of Drug Treatment for Peroxisome Biogenesis Disorder 14B

Unfortunately, there is no established treatment protocol for peroxisome biogenesis disorder 14B (PBD14B), a rare genetic disorder caused by mutations in the PEX11B gene. According to recent studies [4][5], symptomatic therapy is currently the best approach for managing this condition.

Symptomatic Therapy

Symptomatic therapy involves treating specific symptoms and complications associated with PBD14B, such as neurological dysfunction, craniofacial abnormalities, and other systemic manifestations [8]. This approach may help alleviate some of the symptoms, but it does not address the underlying genetic cause of the disorder.

Research and Development

Researchers are actively exploring new therapeutic strategies for treating peroxisome biogenesis disorders, including PBD14B. However, more studies are needed to develop effective treatments for this condition [3][7].

Current Treatment Options

At present, there are no specific drugs or medications approved for the treatment of PBD14B. Treatment is typically focused on managing symptoms and preventing complications associated with the disorder.

Future Directions

Further research is necessary to identify potential therapeutic targets and develop effective treatments for peroxisome biogenesis disorders like PBD14B. This may involve exploring new pharmacological approaches, gene therapy, or other innovative strategies [9].

References:

[3] by RL Taylor · 2017 · Cited by 30 — Most recently, PEX11B was associated with an atypical peroxisome biogenesis disorder (PBD) in a single individual. In this study, we identify further PEX11B ...

[4] by S Khoddam · 2024 — ... peroxisome biogenesis disorder 14B (MIM: 614920). ... There is no treatment protocol for this disease, yet. ... Briefly, symptomatic therapy is better to be ...

[5] by RL Taylor · 2017 · Cited by 30 — Most recently, PEX11B was associated with an atypical peroxisome biogenesis disorder (PBD) in a single individual. In this study, we identify further PEX11B ...

[7] Integrated disease information for Peroxisomal Biogenesis Disorder including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated ...

[8] Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, ...

[9] Methods and compositions are provided for treatment of peroxisomal biogenesis disorders ... 14B) and photopic (FIG. ... As used herein, Zellweger syndrome disorder ...

Peroxisome biogenesis disorder 14B (PBD14B) is a rare genetic disorder that affects the formation of peroxisomes, which are organelles responsible for various cellular functions. To determine the differential diagnosis of PBD14B, let's consider the key features and characteristics of this condition.

Key Features:

• Autosomal recessive inheritance: PBD14B is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
• Mild intellectual disability: Individuals with PBD14B often exhibit mild intellectual disability or developmental delays.
• Congenital cataract: A significant feature of PBD14B is the presence of congenital cataracts, which are lens opacities present at birth.
• Peroxisome biogenesis defects: The disorder is characterized by defects in peroxisome biogenesis, leading to impaired function of these organelles.

Differential Diagnosis:

Considering the key features and characteristics of PBD14B, the differential diagnosis for this condition includes:

• Zellweger spectrum disorder: This is a group of disorders that disrupt the formation of peroxisomes, including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.
• Peroxisome biogenesis disorders (PBDs): PBDs are a group of autosomal recessive disorders characterized by defects in peroxisome biogenesis. Other forms of PBDs include PBD1A, PBD2, PBD3, and PBD5.
• Other genetic disorders: Conditions such as intellectual disability, developmental delays, and congenital cataracts can be caused by mutations in various genes, making differential diagnosis essential to identify the specific underlying condition.

Genetic Heterogeneity:

PBD14B is a genetically heterogeneous disorder, meaning that it can be caused by mutations in any one of several genes involved in peroxisome biogenesis. The PEX11B gene has been associated with this condition, but other genes may also contribute to the development of PBD14B.

References:

• [1] Tian et al. (2020) - Mutations in the PEX11B gene lead to peroxisome biosynthesis disorders of type 14B in autosomal recessive disorders.
• [3,4] Oct 12, 2021 - Diseases that disrupt the formation of peroxisomes, including Zellweger spectrum disorder, are called peroxisome biogenesis disorders.
• [6] The Zellweger spectrum of peroxisome biogenesis disorders (PBD) are autosomal recessive disorders characterized by neurological defects (including intellectual disability).
• [7] is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes, known as pexins, involved in peroxisome biogenesis.
• [9] Mutations in 14 genes cause a spectrum of peroxisomal disease in humans. Most recently, PEX11B was associated with an atypical peroxisome biogenesis disorder (PBD14B).