Ghosal Hematodiaphyseal Dysplasia

Also Known As:

Ghosal Syndrome

Networked: 8 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Anemia: 38331
    - Refractory Anemia: 609
      - Ghosal Hematodiaphyseal Dysplasia: 8
  - Bone Marrow Diseases: 135
    - Myelodysplastic Syndromes: 8364
      - Refractory Anemia: 609
        Ghosal Hematodiaphyseal Dysplasia: 8
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Ghosal Hematodiaphyseal Dysplasia: 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Ghosal Hematodiaphyseal Dysplasia: 8

Related Diseases

1.	Cytopenia
2.	Anemia
3.	Primary Hypertrophic Osteoarthropathy (Hypertrophic Osteoarthropathy, Primary)
4.	Bone Marrow Failure Disorders

Experts

1.	de Vernejoul, Marie-Christine: 2 articles (03/2010 - 03/2008)
2.	Abraham, Suneetha Susan C: 1 article (01/2021)
3.	Barney, Anitha M: 1 article (01/2021)
4.	Bhat, Rukhmi: 1 article (01/2021)
5.	Danda, Sumita: 1 article (01/2021)
6.	Gibikote, Sridhar: 1 article (01/2021)
7.	Gong, Shunyou: 1 article (01/2021)
8.	Ing, Alexander: 1 article (01/2021)
9.	Joy, Praisy: 1 article (01/2021)
10.	Kim, Sun Young: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ghosal Hematodiaphyseal Dysplasia:

1.	Non-Steroidal Anti-Inflammatory Agents (NSAIDs)IBA 01/01/2023 - "Our data show that NSAIDs at standard doses surprisingly reduced both COX and LOX products, leading to the resolution of cytopenia, and should be considered for first-line treatment for Ghosal hematodiaphyseal dysplasia syndrome." 01/01/2023 - "We treated 2 patients with Ghosal hematodiaphyseal dysplasia syndrome, an adult and a child, with standard doses of NSAIDs (aspirin or ibuprofen). "
2.	Thromboxane-A SynthaseIBA 01/01/2021 - "Homozygous or compound heterozygous pathogenic variants in the thromboxane A synthase 1 (TBXAS1) gene are associated with Ghosal hematodiaphyseal dysplasia (GHDD) which is characterized by defective hematopoiesis and increased bone density of long bones. " 08/01/2019 - "Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive inherited disorder associated with biallelic mutations in the TBXAS1 gene located on the chromosome 7q33-34, which encodes thromboxane-A-synthase. " 01/01/2023 - "Here, we describe a novel targeted therapeutic approach for Ghosal hematodiaphyseal dysplasia, an autosomal recessive disease characterized by severe normocytic anemia and bone abnormalities due to loss-of-function mutations in thromboxane A synthase 1 (TBXAS1). "
3.	SteroidsIBA 01/01/2021 - "Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids." 04/01/2020 - "Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anemia and diaphyseal dysplasia of long bones. " 05/01/2015 - "Ghosal hematodiaphyseal dysplasia (GHDD) is a recently recognized cause of steroid-responsive anemia. " 05/01/2015 - "Steroid-responsive anemia in patients of Ghosal hematodiaphyseal dysplasia: simple to diagnose and easy to treat."
4.	Adrenal Cortex Hormones (Corticosteroids)IBA 01/01/2023 - "The current treatment for Ghosal hematodiaphyseal dysplasia syndrome consists of corticosteroids. " 01/01/2021 - "Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy."
5.	EicosanoidsIBA 03/01/2010 - "Finally, a third entity, including Ghosal syndrome and pachydermoperiostosis, is related to mutations in genes of the eicosanoid pathway. "
6.	ThromboxanesIBA 03/01/2008 - "Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). " 03/01/2008 - "Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)."
7.	Ibuprofen (Motrin)FDA LinkGeneric 01/01/2023 - "We treated 2 patients with Ghosal hematodiaphyseal dysplasia syndrome, an adult and a child, with standard doses of NSAIDs (aspirin or ibuprofen). "
8.	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 01/01/2023 - "We treated 2 patients with Ghosal hematodiaphyseal dysplasia syndrome, an adult and a child, with standard doses of NSAIDs (aspirin or ibuprofen). "

Therapies and Procedures

1.	Therapeutics 01/01/2023 - "Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia." 01/01/2021 - "Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy."