Ghosal Hematodiaphyseal Dysplasia (GHDD)

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Disease Ontology 12 DOID:0112251 OMIM® 57 231095 KEGG 36 H00490 UMLS via Orphanet 71 C1856465

Orphanet 58 ORPHA1802 MedGen 41 C1856465 SNOMED-CT via HPO 68 128845005 16294009 165397008 258211005 271737000 302215000 318761000119105 34643004 415116008 49347007 52967002 84828003 more UMLS 70 C1856465

MedlinePlus Genetics : ⁴³ 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 deficiency anemia and autosomal recessive disease. An important gene associated with Ghosal Hematodiaphyseal Dysplasia is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways is Arachidonic acid metabolism. Affiliated tissues include bone and bone marrow, and related phenotypes are craniofacial hyperostosis and bowing of the long bones

Disease Ontology : ¹² 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.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1802 Definition Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid -sensitive anemia. Epidemiology The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin. Etiology GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Genetic counseling GHDD is transmitted as an autosomal recessive trait.

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 05-Apr-2021)

KEGG : ³⁶ Diaphyseal dysplasia with anemia (Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1, which encodes thromboxane synthase, has been reported.

UniProtKB/Swiss-Prot : ⁷² Ghosal hematodiaphyseal dysplasia: 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.

Wikipedia : ⁷³ Ghosal hematodiaphyseal dysplasia, is a rare, autosomal recessive disease, characterized by diaphyseal... more...

Clinical features from OMIM®:

231095 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Ghosal Hematodiaphyseal Dysplasia

Search GEO for disease gene expression data for Ghosal Hematodiaphyseal Dysplasia.