MCID: GHS004
MIFTS: 12

Ghosal Hematodiaphyseal Syndrome malady

Bone, Fetal, Blood categories

Summaries for Ghosal Hematodiaphyseal Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Ghosal Hematodiaphyseal Syndrome, also known as ghosal hematodiaphyseal dysplasia, is related to ghosal hematodiaphyseal dysplasia syndrome and myelophthisic anemia, and has symptoms including dense/thickened skull/calvarium/cranial/facial hyperostosis, abnormal vertebral size/shape and pelvis anomaly/narrow/broad iliac wings/pubis abnormality. An important gene associated with Ghosal Hematodiaphyseal Syndrome is TBXAS1 (thromboxane A synthase 1 (platelet)).

Description from OMIM:47 231095

Aliases & Classifications for Ghosal Hematodiaphyseal Syndrome

Sources:
49Orphanet, 61UMLS, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Blood


Characteristics (Orphanet epidemiological data):

49
ghosal hematodiaphyseal dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

ghosal hematodiaphyseal syndrome 47
ghosal hematodiaphyseal dysplasia 49 61
diaphyseal dysplasia - anemia 49
ghosal syndrome 49


External Ids:

OMIM47 231095

Related Diseases for Ghosal Hematodiaphyseal Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Ghosal Hematodiaphyseal Syndrome family:

ghosal hematodiaphyseal dysplasia syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1ghosal hematodiaphyseal dysplasia syndrome10.8
2myelophthisic anemia10.4

Clinical Features for Ghosal Hematodiaphyseal Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

231095

Clinical synopsis from OMIM:

231095

Symptoms:

49 (show all 13)
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • abnormal vertebral size/shape
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • metaphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • enlarged diaphysis/diaphyses
  • cortical anomaly/thick bone cortical layer
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • splenomegaly
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia

Drugs & Therapeutics for Ghosal Hematodiaphyseal Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ghosal Hematodiaphyseal Syndrome

Drug clinical trials:

Search ClinicalTrials for Ghosal Hematodiaphyseal Syndrome

Search NIH Clinical Center for Ghosal Hematodiaphyseal Syndrome

Search CenterWatch for Ghosal Hematodiaphyseal Syndrome

Genetic Tests for Ghosal Hematodiaphyseal Syndrome

Anatomical Context for Ghosal Hematodiaphyseal Syndrome

Animal Models for Ghosal Hematodiaphyseal Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ghosal Hematodiaphyseal Syndrome

Genetic Variations for Ghosal Hematodiaphyseal Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Ghosal Hematodiaphyseal Syndrome:

63
id Symbol AA change Variation SNP ID
1TBXAS1p.Leu82ProVAR_044386
2TBXAS1p.Arg412GlnVAR_044388
3TBXAS1p.Gly481TrpVAR_044389
4TBXAS1p.Leu487ProVAR_044390

Expression for genes affiliated with Ghosal Hematodiaphyseal Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ghosal Hematodiaphyseal Syndrome

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

Pathways for genes affiliated with Ghosal Hematodiaphyseal Syndrome

Compounds for genes affiliated with Ghosal Hematodiaphyseal Syndrome

GO Terms for genes affiliated with Ghosal Hematodiaphyseal Syndrome

Products for genes affiliated with Ghosal Hematodiaphyseal Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ghosal Hematodiaphyseal Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet