Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Ghosal hematodiaphyseal dysplasia(GHDD)

MedGen UID:: 344739
•Concept ID:: C1856465
•: Congenital Abnormality

Synonyms:	Ghosal hematodiaphyseal dysplasia syndrome; Ghosal syndrome
SNOMED CT:	Diaphyseal dysplasia with anemia (389214003); Ghosal hematodiaphyseal dysplasia (389214003); Diaphyseal dysplasia anemia syndrome (389214003); Ghosal syndrome (389214003)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TBXAS1 (7q34)

Monarch Initiative:	MONDO:0009274
OMIM®:	231095
Orphanet:	ORPHA1802

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
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). https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia

Clinical features

From HPO

Refractory anemia

MedGen UID:: 286
•Concept ID:: C0002893
•: Disease or Syndrome

A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)

See: Feature record | Search on this feature

Myelofibrosis

MedGen UID:: 10146
•Concept ID:: C0026987
•: Neoplastic Process

Replacement of bone marrow by fibrous tissue.

See: Feature record | Search on this feature

Thrombocytopenia

MedGen UID:: 52737
•Concept ID:: C0040034
•: Disease or Syndrome

A reduction in the number of circulating thrombocytes.

See: Feature record | Search on this feature

Bone marrow hypocellularity

MedGen UID:: 383749
•Concept ID:: C1855710
•: Finding

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.

See: Feature record | Search on this feature

Diaphyseal dysplasia

MedGen UID:: 4268
•Concept ID:: C0011989
•: Finding

Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.

See: Feature record | Search on this feature

Increased bone mineral density

MedGen UID:: 10502
•Concept ID:: C0029464
•: Disease or Syndrome

An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.

See: Feature record | Search on this feature

Hyperostosis cranialis interna

MedGen UID:: 327093
•Concept ID:: C1840404
•: Disease or Syndrome

Hyperostosis cranialis interna (HCIN) is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).

See: Feature record | Search on this feature

Leukopenia

MedGen UID:: 6073
•Concept ID:: C0023530
•: Disease or Syndrome

An abnormal decreased number of leukocytes in the blood.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of blood and blood-forming tissues
Abnormality of the immune system
- Leukopenia
Abnormality of the musculoskeletal system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGhosal hematodiaphyseal dysplasia

Primary bone dysplasia with increased bone density
- Ghosal hematodiaphyseal dysplasia

Follow this link to review classifications for Ghosal hematodiaphyseal dysplasia in Orphanet.

Recent clinical studies

Diagnosis

Steroid-responsive anemia with bony dysplasias: What lurks behind!

Khandelwal S, Khurana R, Kanvinde P, Khan S, Shah D, Dhabale T, Chadha V, Shah N, Desai M, Bodhanwala M, Swami A, Mudaliar S
J Trop Pediatr 2024 Aug 10;70(5) doi: 10.1093/tropej/fmae028. PMID: 39277773

Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.

Sharma P, Bhatia P, Singh M, Das R, Attri SV, Ghara N, Prasada LH, Trehan A
Gene 2024 Feb 15;895:147981. Epub 2023 Nov 10 doi: 10.1016/j.gene.2023.147981. PMID: 37951373

Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings.

Ciftciler R, Buyukasık Y, Saglam EA, Haznedaroglu IC
Transfus Apher Sci 2019 Aug;58(4):449-452. Epub 2019 Jul 22 doi: 10.1016/j.transci.2019.04.027. PMID: 31395426

Steroid-responsive anemia in patients of Ghosal hematodiaphyseal dysplasia: simple to diagnose and easy to treat.

John RR, Boddu D, Chaudhary N, Yadav VK, Mathew LG
J Pediatr Hematol Oncol 2015 May;37(4):285-9. doi: 10.1097/MPH.0000000000000279. PMID: 25374284

Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient.

Arora R, Aggarwal S, Deme S
Skeletal Radiol 2015 Mar;44(3):447-50. Epub 2014 Aug 30 doi: 10.1007/s00256-014-1989-0. PMID: 25172219

See all (7)

Therapy

Steroid-responsive anemia with bony dysplasias: What lurks behind!

Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Brown TJ, Barrett N, Meng H, Ricciotti E, McDonnell C, Dancis A, Qualtieri J, FitzGerald GA, Cotter M, Babushok DV
Blood 2023 Mar 30;141(13):1553-1559. doi: 10.1182/blood.2022018667. PMID: 36574346 Free PMC Article

Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.

Kim SY, Ing A, Gong S, Yap KL, Bhat R
Mol Genet Genomic Med 2021 Mar;9(3):e1494. Epub 2021 Feb 17 doi: 10.1002/mgg3.1494. PMID: 33595912 Free PMC Article

Steroid-responsive anemia in patients of Ghosal hematodiaphyseal dysplasia: simple to diagnose and easy to treat.

John RR, Boddu D, Chaudhary N, Yadav VK, Mathew LG
J Pediatr Hematol Oncol 2015 May;37(4):285-9. doi: 10.1097/MPH.0000000000000279. PMID: 25374284

Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.

Mazaheri P, Nadkarni G, Lowe E, Hines P, Vuica M, Griffin M, Resar LM
Pediatr Blood Cancer 2010 Dec 1;55(6):1187-90. doi: 10.1002/pbc.22662. PMID: 20672367

See all (5)