MCID: GHS005
MIFTS: 28

Ghosal Hematodiaphyseal Dysplasia

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

Aliases & Classifications for Ghosal Hematodiaphyseal Dysplasia

MalaCards integrated aliases for Ghosal Hematodiaphyseal Dysplasia:

Name: Ghosal Hematodiaphyseal Dysplasia 57 53 25 59 75 73
Ghosal Syndrome 57 53 25 59 29 6 40
Ghdd 57 53 25 75
Ghosal Hematodiaphyseal Syndrome 57 13 6
Diaphyseal Dysplasia Associated with Anemia 25
Ghosal Hematodiaphyseal Dysplasia Syndrome 53
Ghosal-Type Hemato-Diaphyseal Dysplasia 25
Diaphyseal Dysplasia-Anemia Syndrome 59
Ghosal Hemato-Diaphyseal Dysplasia 25
Diaphyseal Dysplasia with Anemia 37

Characteristics:

Orphanet epidemiological data:

59
ghosal hematodiaphyseal dysplasia
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ghosal hematodiaphyseal dysplasia:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 231095
Orphanet 59 ORPHA1802
UMLS via Orphanet 74 C1856465
MedGen 42 C1856465
KEGG 37 H00490
UMLS 73 C1856465

Summaries for Ghosal Hematodiaphyseal Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1802Disease definitionGhosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.EpidemiologyThe exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin.EtiologyGHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase).Genetic counselingGHDD is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ghosal Hematodiaphyseal Dysplasia, also known as ghosal syndrome, is related to myelofibrosis and myelophthisic anemia. 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 neurological speech impairment and splenomegaly

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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 : 76 Ghosal hematodiaphyseal dysplasia is a metabolic... more...

Description from OMIM: 231095

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 myelofibrosis 10.3
2 myelophthisic anemia 10.3

Symptoms & Phenotypes for Ghosal Hematodiaphyseal Dysplasia

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ghosal Hematodiaphyseal Dysplasia:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
2 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
3 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
4 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
5 abnormal cortical bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003103
6 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
7 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
8 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
9 diaphyseal thickening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005019
10 abnormality of immune system physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0010978
11 abnormality of femur morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002823
12 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644
13 abnormality of tibia morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002992
14 bone marrow hypocellularity 32 HP:0005528
15 thrombocytopenia 32 HP:0001873
16 increased bone mineral density 32 HP:0011001
17 leukopenia 32 occasional (7.5%) HP:0001882
18 diaphyseal dysplasia 32 HP:0100252
19 myelofibrosis 32 HP:0011974
20 refractory anemia 32 HP:0005505
21 hyperostosis cranialis interna 32 occasional (7.5%) HP:0005890

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 Syndrome 29 TBXAS1

Anatomical Context for Ghosal Hematodiaphyseal Dysplasia

MalaCards organs/tissues related to Ghosal Hematodiaphyseal Dysplasia:

41
Bone, Bone Marrow

Publications for Ghosal Hematodiaphyseal Dysplasia

Articles related to Ghosal Hematodiaphyseal Dysplasia:

# Title Authors Year
1
Steroid-responsive anemia in patients of Ghosal hematodiaphyseal dysplasia: simple to diagnose and easy to treat. ( 25374284 )
2015
2
Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient. ( 25172219 )
2015
3
Ghosal hematodiaphyseal dysplasia with myelofibrosis. ( 22983925 )
2013
4
Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia. ( 20672367 )
2010
5
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). ( 18264100 )
2008

Variations for Ghosal Hematodiaphyseal Dysplasia

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

75
# 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

ClinVar genetic disease variations for Ghosal Hematodiaphyseal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBXAS1 NM_001061.4(TBXAS1): c.1463T> C (p.Leu488Pro) single nucleotide variant Pathogenic rs199422114 GRCh37 Chromosome 7, 139717566: 139717566
2 TBXAS1 NM_001061.4(TBXAS1): c.1463T> C (p.Leu488Pro) single nucleotide variant Pathogenic rs199422114 GRCh38 Chromosome 7, 140017766: 140017766
3 TBXAS1 NM_001061.4(TBXAS1): c.1444G> T (p.Gly482Trp) single nucleotide variant Pathogenic rs199422116 GRCh37 Chromosome 7, 139717547: 139717547
4 TBXAS1 NM_001061.4(TBXAS1): c.1444G> T (p.Gly482Trp) single nucleotide variant Pathogenic rs199422116 GRCh38 Chromosome 7, 140017747: 140017747
5 TBXAS1 NM_001061.4(TBXAS1): c.1238G> A (p.Arg413Gln) single nucleotide variant Pathogenic rs199422117 GRCh37 Chromosome 7, 139715531: 139715531
6 TBXAS1 NM_001061.4(TBXAS1): c.1238G> A (p.Arg413Gln) single nucleotide variant Pathogenic rs199422117 GRCh38 Chromosome 7, 140015731: 140015731
7 TBXAS1 NM_001130966.2(TBXAS1): c.1423delG (p.Ala475Profs) deletion Pathogenic rs794727053 GRCh37 Chromosome 7, 139717526: 139717526
8 TBXAS1 NM_001130966.2(TBXAS1): c.1423delG (p.Ala475Profs) deletion Pathogenic rs794727053 GRCh38 Chromosome 7, 140017726: 140017726

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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