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Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Features include common findings: Hyperostosis cranialis interna; and sometimes findings: Low white blood cell count (decreased total leukocyte count). 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Low white blood cell count (decreased total leukocyte count), Low platelet count (thrombocytopenia), Refractory anemia |
TBXAS1 function has not been fully characterized.
Ghosal hematodiaphyseal dysplasia is caused by mutations in the TBXAS1 gene on chromosome 7.
Genetic testing for TBXAS1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for ghosal hematodiaphyseal dysplasia.
8 publications have been identified in PubMed for ghosal hematodiaphyseal dysplasia. Research spans Case Report / Case Series (75%), Other (13%), and Basic Science / Preclinical (13%).
Pathak S (2026). [PMID: 41729382](https://pubmed.ncbi.nlm.nih.gov/41729382/). *Indian Pediatr*. [Other]
Dikme G (2026). [PMID: 42059562](https://pubmed.ncbi.nlm.nih.gov/42059562/). *J Pediatr Hematol Oncol*. [Case Report / Case Series]
Kisla Ekinci RM (2025). [PMID: 41148195](https://pubmed.ncbi.nlm.nih.gov/41148195/). *Expert Rev Clin Immunol*. [Case Report / Case Series]
Uludağ Alkaya D (2025). [PMID: 40198394](https://pubmed.ncbi.nlm.nih.gov/40198394/). *Calcif Tissue Int*. [Basic Science / Preclinical]
Ong SG (2024). [PMID: 38873830](https://pubmed.ncbi.nlm.nih.gov/38873830/). *Int J Rheum Dis*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Bones and joints |
2 |
Increased bone density (increased bone mineral density), Bone marrow hypocellularity |
Bordat J (2024). [PMID: 38497148](https://pubmed.ncbi.nlm.nih.gov/38497148/). *Haematologica*. [Case Report / Case Series]
Ravikumar DB (2024). [PMID: 39220787](https://pubmed.ncbi.nlm.nih.gov/39220787/). *Radiol Case Rep*. [Case Report / Case Series]
AI-curated news mentioning ghosal hematodiaphyseal dysplasia
Updated Apr 30, 2026
A recent case report details Ghosal hematodiaphyseal dysplasia, contributing to the understanding of this rare condition through a review of genetically confirmed cases. This research adds valuable insights into the genetic underpinnings of the disease.