MCID: GHS004
MIFTS: 25

Ghosal Hematodiaphyseal Syndrome malady

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

Aliases & Classifications for Ghosal Hematodiaphyseal Syndrome

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Aliases & Descriptions for Ghosal Hematodiaphyseal Syndrome:

Name: Ghosal Hematodiaphyseal Syndrome 50 23 12
Ghosal Hematodiaphyseal Dysplasia 50 46 24 52 68 66
Ghosal Syndrome 46 23 24 52 25
Ghdd 46 24 68
Diaphyseal Dysplasia Associated with Anemia 24
 
Ghosal Hematodiaphyseal Dysplasia Syndrome 46
Ghosal-Type Hemato-Diaphyseal Dysplasia 24
Diaphyseal Dysplasia-Anemia Syndrome 52
Ghosal Hemato-Diaphyseal Dysplasia 24

Characteristics:

Orphanet epidemiological data:

52
ghosal hematodiaphyseal dysplasia:
Inheritance: Autosomal recessive

HPO:

62
ghosal hematodiaphyseal syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 231095
Orphanet52 ORPHA1802
MedGen35 C1856465

Summaries for Ghosal Hematodiaphyseal Syndrome

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UniProtKB/Swiss-Prot:68 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.

MalaCards based summary: Ghosal Hematodiaphyseal Syndrome, also known as ghosal hematodiaphyseal dysplasia, is related to myelofibrosis and myelophthisic anemia, and has symptoms including abnormality of the metaphyses, abnormality of pelvic girdle bone morphology and abnormality of the femur. An important gene associated with Ghosal Hematodiaphyseal Syndrome is TBXAS1 (Thromboxane A Synthase 1). Affiliated tissues include bone and bone marrow.

Genetics Home Reference:24 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:69 Ghosal hematodiaphyseal dysplasia is a metabolic disorder. more...

Description from OMIM:50 231095

Related Diseases for Ghosal Hematodiaphyseal Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis10.3
2myelophthisic anemia10.3

Symptoms for Ghosal Hematodiaphyseal Syndrome

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Symptoms by clinical synopsis from OMIM:

231095

Clinical features from OMIM:

231095

Symptoms:

 52 (show all 13)
  • abnormality of the metaphyses
  • splenomegaly
  • anemia
  • neurological speech impairment
  • abnormality of pelvic girdle bone morphology
  • abnormality of the femur
  • abnormality of the tibia
  • abnormal cortical bone morphology
  • abnormal form of the vertebral bodies
  • craniofacial hyperostosis
  • diaphyseal thickening
  • bowing of the long bones
  • abnormality of immune system physiology

HPO human phenotypes related to Ghosal Hematodiaphyseal Syndrome:

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

Drugs & Therapeutics for Ghosal Hematodiaphyseal Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ghosal Hematodiaphyseal Syndrome

Genetic Tests for Ghosal Hematodiaphyseal Syndrome

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Genetic tests related to Ghosal Hematodiaphyseal Syndrome:

id Genetic test Affiliating Genes
1 Ghosal Syndrome25
2 Ghosal Hematodiaphyseal Syndrome23 TBXAS1

Anatomical Context for Ghosal Hematodiaphyseal Syndrome

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MalaCards organs/tissues related to Ghosal Hematodiaphyseal Syndrome:

34
Bone, Bone marrow

Animal Models for Ghosal Hematodiaphyseal Syndrome or affiliated genes

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Publications for Ghosal Hematodiaphyseal Syndrome

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Variations for Ghosal Hematodiaphyseal Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1TBXAS1p.Leu82ProVAR_044386rs140005285
2TBXAS1p.Arg412GlnVAR_044388rs199422117
3TBXAS1p.Gly481TrpVAR_044389rs199422116
4TBXAS1p.Leu487ProVAR_044390rs199422114

Clinvar genetic disease variations for Ghosal Hematodiaphyseal Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TBXAS1NM_001130966.2(TBXAS1): c.1423delG (p.Ala475Profs)deletionPathogenicrs794727053GRCh37Chr 7, 139717526: 139717526

Expression for genes affiliated with Ghosal Hematodiaphyseal Syndrome

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

Pathways for genes affiliated with Ghosal Hematodiaphyseal Syndrome

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GO Terms for genes affiliated with Ghosal Hematodiaphyseal Syndrome

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Sources for Ghosal Hematodiaphyseal Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet