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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).
 
Gene (location): 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)
Myelofibrosis
MedGen UID:
10146
Concept ID:
C0026987
Neoplastic Process
Replacement of bone marrow by fibrous tissue.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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.
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.
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.
Hyperostosis cranialis interna
MedGen UID:
327093
Concept ID:
C1840404
Disease or Syndrome
Hyperostosis cranialis interna 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).
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGhosal hematodiaphyseal dysplasia
Follow this link to review classifications for Ghosal hematodiaphyseal dysplasia in Orphanet.

Recent clinical studies

Therapy

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
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: 36574346Free PMC Article
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: 33595912Free PMC Article
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
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

Prognosis

Sharma R, Sierra Potchanant E, Schwartz JE, Nalepa G
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Sep 4 doi: 10.1002/pbc.26777. PMID: 28868793

Clinical prediction guides

Sharma R, Sierra Potchanant E, Schwartz JE, Nalepa G
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Sep 4 doi: 10.1002/pbc.26777. PMID: 28868793

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