Ghosal Hematodiaphyseal Dysplasia (GHDD)

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MedlinePlus Genetics: ⁴² Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking.Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones where blood cells are formed. The abnormal bone marrow cannot produce enough red blood cells, which leads to anemia. Signs and symptoms of anemia that have been reported in people with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and excessive tiredness (fatigue).

MalaCards based summary: Ghosal Hematodiaphyseal Dysplasia, also known as ghosal syndrome, is related to camurati-engelmann disease and myelofibrosis. An important gene associated with Ghosal Hematodiaphyseal Dysplasia is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Type I collagen synthesis in the context of osteogenesis imperfecta. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are craniofacial hyperostosis and bowing of the long bones

UniProtKB/Swiss-Prot: ⁷³ Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all.

Disease Ontology: ¹¹ A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has material basis in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.

OMIM®: ⁵⁷ Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia (summary by Genevieve et al., 2008). (231095) (Updated 08-Dec-2022)

GARD: ¹⁹ Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

Orphanet: ⁵⁸ Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

Wikipedia: ⁷⁵ Ghosal hematodiaphyseal dysplasia, is a rare, autosomal recessive disease, characterized by diaphyseal... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Ghosal Hematodiaphyseal Dysplasia