Ghosal Hematodiaphyseal Syndrome malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases
Aliases & Descriptions for Ghosal Hematodiaphyseal Syndrome:
Orphanet epidemiological data:52
ghosal hematodiaphyseal dysplasia:
Inheritance: Autosomal recessive
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Blood diseases
UniProtKB/Swiss-Prot:68 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.
MalaCards based summary: Ghosal Hematodiaphyseal Syndrome, also known as ghosal hematodiaphyseal dysplasia, is related to myelofibrosis and myelophthisic anemia, and has symptoms including abnormality of the metaphyses, abnormality of pelvic girdle bone morphology and abnormality of the femur. An important gene associated with Ghosal Hematodiaphyseal Syndrome is TBXAS1 (Thromboxane A Synthase 1). Affiliated tissues include bone and bone marrow.
Genetics Home Reference:24 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.
Wikipedia:69 Ghosal hematodiaphyseal dysplasia is a metabolic disorder. more...
Description from OMIM:50 231095
Diseases related to Ghosal Hematodiaphyseal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Symptoms by clinical synopsis from OMIM:231095
Clinical features from OMIM:231095
Symptoms:52 (show all 13)
HPO human phenotypes related to Ghosal Hematodiaphyseal Syndrome:(show all 19)
MalaCards organs/tissues related to Ghosal Hematodiaphyseal Syndrome:34
Bone, Bone marrow
UniProtKB/Swiss-Prot genetic disease variations for Ghosal Hematodiaphyseal Syndrome:68
Clinvar genetic disease variations for Ghosal Hematodiaphyseal Syndrome:5
Search GEO for disease gene expression data for Ghosal Hematodiaphyseal Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet