Ghosal Hematodiaphyseal Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Blood diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 231095

Orphanet ⁵⁹ ORPHA1802

UMLS via Orphanet ⁷⁴ C1856465

MedGen ⁴² C1856465

KEGG ³⁷ H00490

SNOMED-CT via HPO ⁶⁹ 258211005 16294009 302215000 more

UMLS ⁷³ C1856465

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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

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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

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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

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Drugs & Therapeutics for Ghosal Hematodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Ghosal Hematodiaphyseal Dysplasia

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Genetic Tests for Ghosal Hematodiaphyseal Dysplasia

Genetic tests related to Ghosal Hematodiaphyseal Dysplasia:

#	Genetic test	Affiliating Genes
1	Ghosal Syndrome ²⁹	TBXAS1

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Anatomical Context for Ghosal Hematodiaphyseal Dysplasia

MalaCards organs/tissues related to Ghosal Hematodiaphyseal Dysplasia:

⁴¹

Bone, Bone Marrow

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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 )	John R.R....Mathew L.G.	2015
2	Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient. ( 25172219 )	Arora R....Deme S.	2015
3	Ghosal hematodiaphyseal dysplasia with myelofibrosis. ( 22983925 )	Datta K....Banerjee G.	2013
4	Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia. ( 20672367 )	Mazaheri P....Resar L.M.	2010
5	Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). ( 18264100 )	Genevieve D....Cormier-Daire V.	2008

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Genes for Ghosal Hematodiaphyseal Dysplasia

Genes related to Ghosal Hematodiaphyseal Dysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TBXAS1	Thromboxane A Synthase 1	Protein Coding	1678.42	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)

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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

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Expression for Ghosal Hematodiaphyseal Dysplasia

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

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Pathways for Ghosal Hematodiaphyseal Dysplasia

Pathways related to Ghosal Hematodiaphyseal Dysplasia according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Arachidonic acid metabolism	hsa00590

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GO Terms for Ghosal Hematodiaphyseal Dysplasia

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Sources for Ghosal Hematodiaphyseal Dysplasia

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