Ghosal hematodiaphyseal dysplasia information

Ghosal hematodiaphyseal dysplasia
Ghosal hematodiaphyseal dysplasia
Other names	GHDD
	Thromboxane A2

Ghosal hematodiaphyseal dysplasia, is a rare, autosomal recessive disease, characterized by diaphyseal dysplasia and metaphyseal dysplasia of the long bones and refractory anemia.^[2]^[3]^[1]

It is associated with a deficiency of Thromboxane-A synthase,^[4] which produces Thromboxane A2.

Although this disease is like Camurati–Engelmann disease where there is also diaphyseal dysplasia, there are, however, reasons to differentiate between the two diseases. As mentioned earlier, both diseases affect diaphysis, but Ghosal hematodiaphyseal dysplasia, affects both the diaphysis, and metaphyses.^[1] Also, Camurati–Engelmann disease has no sign of defective haematopoiesis, but Ghosal hematodiaphyseal dysplasia is associated with a hematological abnormality.^[5]^[6]

This is a rare disease and was characterized in 1988 by Ghosal in several children with anemia and bony dysplasia.^[7]^[8] Later, in 2008, there was a discovery that a mutation in the gene TBXAS1 cause some of the distinct features in this disease such as increased bone density.^[3]^[9]

Most cases are found in India and the Middle East area, likely meaning a shared gene pool.^[10]

^ ^a ^b ^c "OMIM Entry - # 231095 - Ghosal hematodiaphyseal dysplasia ; GHDD". Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Retrieved 14 April 2019.
^ Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, et al. (April 2007). "A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34". Human Genetics. 121 (2): 269–73. doi:10.1007/s00439-006-0311-1. PMID 17203301. S2CID 29595410.
^ ^a ^b Alebouyeh, Mardawig; Vossough, Parvanch; Tabarrok, Firouz (9 July 2009). "Early Manifestation of Ghosal-Type Hemato-Diaphyseal Dysplasia". Pediatric Hematology and Oncology. 20 (5): 409–415. doi:10.1080/08880010390203945. PMID 12775540. S2CID 26922603.
^ Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, et al. (March 2008). "Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)". Nature Genetics. 40 (3): 284–6. doi:10.1038/ng.2007.66. PMID 18264100. S2CID 2179041.
^ Datta K, Karmakar M, Hira M, Halder S, Pramanik K, Banerjee G (December 2013). "Ghosal hematodiaphyseal dysplasia with myelofibrosis". Indian Journal of Pediatrics. 80 (12): 1050–2. doi:10.1007/s12098-012-0872-z. PMID 22983925. S2CID 35709801.
^ Arora R, Aggarwal S, Deme S (March 2015). "Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient". Skeletal Radiology. 44 (3): 447–50. doi:10.1007/s00256-014-1989-0. PMID 25172219. S2CID 11175313.
^ Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK (July 1988). "Diaphyseal dysplasia associated with anemia". The Journal of Pediatrics. 113 (1 Pt 1): 49–57. doi:10.1016/s0022-3476(88)80527-4. PMID 3385529.
^ Ghosal, S. P.; Mukherjee, A. K.; Mukherjee, D.; Ghosh, A. K. (July 1988). "Diaphyseal dysplasia associated with anemia". The Journal of Pediatrics. 113 (1 Pt 1): 49–57. doi:10.1016/s0022-3476(88)80527-4. ISSN 0022-3476. PMID 3385529.
^ Cite error: The named reference :1 was invoked but never defined (see the help page).
^ Jeevan A, Doyard M, Kabra M, Daire VC, Gupta N (April 2016). "Ghosal Type Hematodiaphyseal Dysplasia". Indian Pediatrics. 53 (4): 347–8. doi:10.1007/s13312-016-0851-y. PMID 27156553. S2CID 9030177.

[OMIM_231095-1] "OMIM Entry - # 231095 - Ghosal hematodiaphyseal dysplasia ; GHDD". Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Retrieved 14 April 2019.

[pmid17203301-2] Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, et al. (April 2007). "A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34". Human Genetics. 121 (2): 269–73. doi:10.1007/s00439-006-0311-1. PMID 17203301. S2CID 29595410.

[:2-3] Alebouyeh, Mardawig; Vossough, Parvanch; Tabarrok, Firouz (9 July 2009). "Early Manifestation of Ghosal-Type Hemato-Diaphyseal Dysplasia". Pediatric Hematology and Oncology. 20 (5): 409–415. doi:10.1080/08880010390203945. PMID 12775540. S2CID 26922603.

[Geneviève_2008-4] Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, et al. (March 2008). "Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)". Nature Genetics. 40 (3): 284–6. doi:10.1038/ng.2007.66. PMID 18264100. S2CID 2179041.

[Datta_2013-5] Datta K, Karmakar M, Hira M, Halder S, Pramanik K, Banerjee G (December 2013). "Ghosal hematodiaphyseal dysplasia with myelofibrosis". Indian Journal of Pediatrics. 80 (12): 1050–2. doi:10.1007/s12098-012-0872-z. PMID 22983925. S2CID 35709801.

[Arora_2015-6] Arora R, Aggarwal S, Deme S (March 2015). "Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient". Skeletal Radiology. 44 (3): 447–50. doi:10.1007/s00256-014-1989-0. PMID 25172219. S2CID 11175313.

[pmid3385529-7] Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK (July 1988). "Diaphyseal dysplasia associated with anemia". The Journal of Pediatrics. 113 (1 Pt 1): 49–57. doi:10.1016/s0022-3476(88)80527-4. PMID 3385529.

[:0-8] Ghosal, S. P.; Mukherjee, A. K.; Mukherjee, D.; Ghosh, A. K. (July 1988). "Diaphyseal dysplasia associated with anemia". The Journal of Pediatrics. 113 (1 Pt 1): 49–57. doi:10.1016/s0022-3476(88)80527-4. ISSN 0022-3476. PMID 3385529.

[:1-9] Cite error: The named reference :1 was invoked but never defined (see the help page).

[Jeevan_2016-10] Jeevan A, Doyard M, Kabra M, Daire VC, Gupta N (April 2016). "Ghosal Type Hematodiaphyseal Dysplasia". Indian Pediatrics. 53 (4): 347–8. doi:10.1007/s13312-016-0851-y. PMID 27156553. S2CID 9030177.