GHDD
MCID: GHS005
MIFTS: 33

Ghosal Hematodiaphyseal Dysplasia (GHDD)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Ghosal Hematodiaphyseal Dysplasia

MalaCards integrated aliases for Ghosal Hematodiaphyseal Dysplasia:

Name: Ghosal Hematodiaphyseal Dysplasia 57 12 20 43 58 72 29 6 70
Ghosal Syndrome 57 12 20 43 58 39
Ghosal Hematodiaphyseal Syndrome 57 12 29 13 6
Ghdd 57 20 43 72
Diaphyseal Dysplasia-Anemia Syndrome 12 58
Diaphyseal Dysplasia Associated with Anemia 43
Ghosal Hematodiaphyseal Dysplasia Syndrome 20
Ghosal-Type Hemato-Diaphyseal Dysplasia 43
Ghosal Hemato-Diaphyseal Dysplasia 43
Diaphyseal Dysplasia with Anemia 36

Characteristics:

Orphanet epidemiological data:

58
ghosal hematodiaphyseal dysplasia
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
anemia is responsive to corticosteroid treatment
most patients present in infancy with anemia


HPO:

31
ghosal hematodiaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0112251
OMIM® 57 231095
KEGG 36 H00490
UMLS via Orphanet 71 C1856465
Orphanet 58 ORPHA1802
MedGen 41 C1856465
UMLS 70 C1856465

Summaries for Ghosal Hematodiaphyseal Dysplasia

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...

Related Diseases for Ghosal Hematodiaphyseal Dysplasia

Diseases related to Ghosal Hematodiaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deficiency anemia 10.5
2 autosomal recessive disease 10.4
3 splenomegaly 10.4
4 refractory anemia 10.4
5 metaphyseal dysplasia 10.3
6 myelofibrosis 10.3
7 pancytopenia 10.3
8 thrombocytopenia 10.3
9 myelophthisic anemia 10.3

Graphical network of the top 20 diseases related to Ghosal Hematodiaphyseal Dysplasia:



Diseases related to Ghosal Hematodiaphyseal Dysplasia

Symptoms & Phenotypes for Ghosal Hematodiaphyseal Dysplasia

Human phenotypes related to Ghosal Hematodiaphyseal Dysplasia:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
2 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
3 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
4 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
7 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
8 abnormality of immune system physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010978
9 abnormality of femur morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002823
10 abnormality of tibia morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002992
11 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
12 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
13 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
14 leukopenia 31 occasional (7.5%) HP:0001882
15 hyperostosis cranialis interna 31 occasional (7.5%) HP:0005890
16 thrombocytopenia 31 HP:0001873
17 increased bone mineral density 31 HP:0011001
18 bone marrow hypocellularity 31 HP:0005528
19 myelofibrosis 31 HP:0011974
20 refractory anemia 31 HP:0005505
21 diaphyseal dysplasia 31 HP:0100252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
thrombocytopenia
myelofibrosis
anemia, corticosteroid-sensitive
leukopenia (less common)
hypocellular bone marrow

Skeletal:
increased bone density

Skeletal Limbs:
diaphyseal dysplasia
cortical hyperostosis
thick long bones of the extremities
wide diaphyseal medullary cavities

Clinical features from OMIM®:

231095 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ghosal Hematodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Ghosal Hematodiaphyseal Dysplasia

Genetic Tests for Ghosal Hematodiaphyseal Dysplasia

Genetic tests related to Ghosal Hematodiaphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Ghosal Hematodiaphyseal Dysplasia 29 TBXAS1
2 Ghosal Hematodiaphyseal Syndrome 29

Anatomical Context for Ghosal Hematodiaphyseal Dysplasia

MalaCards organs/tissues related to Ghosal Hematodiaphyseal Dysplasia:

40
Bone, Bone Marrow

Publications for Ghosal Hematodiaphyseal Dysplasia

Articles related to Ghosal Hematodiaphyseal Dysplasia:

(show all 17)
# Title Authors PMID Year
1
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). 61 6 57
18264100 2008
2
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. 57 6
17203301 2007
3
Ghosal haemato-diaphyseal dysplasia: a new disorder. 57
8444247 1993
4
High-dose intravenous methylprednisolone therapy for anemia associated with diaphyseal dysplasia. 57
2715908 1989
5
Diaphyseal dysplasia associated with anemia. 57
3385529 1988
6
A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia. 61
33244729 2021
7
Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids. 61
33595912 2021
8
Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy. 61
33185009 2021
9
Ghosal Hematodiaphyseal Dysplasia: A Case Report. 61
32461797 2020
10
Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings. 61
31395426 2019
11
Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency. 61
28868793 2018
12
Ghosal Syndrome--Ten Years Follow-up. 61
25598443 2015
13
Steroid-responsive anemia in patients of Ghosal hematodiaphyseal dysplasia: simple to diagnose and easy to treat. 61
25374284 2015
14
Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient. 61
25172219 2015
15
Ghosal hematodiaphyseal dysplasia with myelofibrosis. 61
22983925 2013
16
Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia. 61
20672367 2010
17
Heritable sclerosing bone disorders: presentation and new molecular mechanisms. 61
20392246 2010

Variations for Ghosal Hematodiaphyseal Dysplasia

ClinVar genetic disease variations for Ghosal Hematodiaphyseal Dysplasia:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBXAS1 NM_030984.5(TBXAS1):c.1364+1906T>C SNV Pathogenic 11886 rs199422114 GRCh37: 7:139717566-139717566
GRCh38: 7:140017766-140017766
2 TBXAS1 NM_030984.5(TBXAS1):c.1364+1887G>T SNV Pathogenic 11888 rs199422116 GRCh37: 7:139717547-139717547
GRCh38: 7:140017747-140017747
3 TBXAS1 NM_001366537.2(TBXAS1):c.151-24958T>C SNV Pathogenic 11887 rs140005285 GRCh37: 7:139611032-139611032
GRCh38: 7:139911233-139911233
4 TBXAS1 NM_001061.6(TBXAS1):c.1235G>A (p.Arg412Gln) SNV Pathogenic 11889 rs199422117 GRCh37: 7:139715531-139715531
GRCh38: 7:140015731-140015731
5 TBXAS1 NM_001061.7(TBXAS1):c.193G>T (p.Glu65Ter) SNV Pathogenic 1031016 GRCh37: 7:139575393-139575393
GRCh38: 7:139875594-139875594
6 TBXAS1 NM_030984.5(TBXAS1):c.1364+1866del Deletion Pathogenic 194017 rs794727053 GRCh37: 7:139717523-139717523
GRCh38: 7:140017723-140017723
7 TBXAS1 NM_030984.5(TBXAS1):c.1364+1863G>T SNV Likely pathogenic 626181 rs149988492 GRCh37: 7:139717523-139717523
GRCh38: 7:140017723-140017723
8 TBXAS1 NM_001061.6(TBXAS1):c.580_581del (p.Ala194fs) Deletion Likely pathogenic 626225 rs760698812 GRCh37: 7:139655297-139655298
GRCh38: 7:139955498-139955499
9 TBXAS1 NM_001061.6(TBXAS1):c.1235G>A (p.Arg412Gln) SNV Conflicting interpretations of pathogenicity 11889 rs199422117 GRCh37: 7:139715531-139715531
GRCh38: 7:140015731-140015731
10 TBXAS1 NM_001061.6(TBXAS1):c.790G>T (p.Ala264Ser) SNV Uncertain significance 432476 rs376564758 GRCh37: 7:139657534-139657534
GRCh38: 7:139957735-139957735
11 TBXAS1 NM_001061.6(TBXAS1):c.1066C>G (p.Leu356Val) SNV Benign 498646 rs4529 GRCh37: 7:139661964-139661964
GRCh38: 7:139962165-139962165

UniProtKB/Swiss-Prot genetic disease variations for Ghosal Hematodiaphyseal Dysplasia:

72
# Symbol AA change Variation ID SNP ID
1 TBXAS1 p.Leu82Pro VAR_044386 rs140005285
2 TBXAS1 p.Arg412Gln VAR_044388 rs199422117
3 TBXAS1 p.Gly481Trp VAR_044389 rs199422116
4 TBXAS1 p.Leu487Pro VAR_044390 rs199422114

Expression for Ghosal Hematodiaphyseal Dysplasia

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

Pathways for Ghosal Hematodiaphyseal Dysplasia

Pathways related to Ghosal Hematodiaphyseal Dysplasia according to KEGG:

36
# Name Kegg Source Accession
1 Arachidonic acid metabolism hsa00590

GO Terms for Ghosal Hematodiaphyseal Dysplasia

Sources for Ghosal Hematodiaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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