MCID: GHS004
MIFTS: 23

Ghosal Hematodiaphyseal Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases categories

Summaries for Ghosal Hematodiaphyseal Syndrome

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Genetics Home Reference:21 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.

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, anemia and abnormality of pelvic girdle bone morphology. An important gene associated with Ghosal Hematodiaphyseal Syndrome is TBXAS1 (thromboxane A synthase 1 (platelet)). Affiliated tissues include bone and bone marrow.

Wikipedia:63 Ghosal hematodiaphyseal dysplasia is a metabolic disorder. more...

Description from OMIM:45 231095

Aliases & Classifications for Ghosal Hematodiaphyseal Syndrome

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Ghosal Hematodiaphyseal Syndrome, Aliases & Descriptions:

Name: Ghosal Hematodiaphyseal Syndrome 45 10
Ghosal Hematodiaphyseal Dysplasia 45 41 21 47 60
Ghosal Syndrome 41 21 47
Diaphyseal Dysplasia - Anemia 41 47
Ghdd 41 21
 
Diaphyseal Dysplasia Associated with Anemia 21
Ghosal Hematodiaphyseal Dysplasia Syndrome 41
Ghosal-Type Hemato-Diaphyseal Dysplasia 21
Ghosal Hemato-Diaphyseal Dysplasia 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
ghosal hematodiaphyseal dysplasia:
Inheritance: Autosomal recessive


External Ids:

OMIM45 231095
Orphanet47 1802

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
1myelofibrosis10.4
2myelophthisic anemia10.4

Symptoms for Ghosal Hematodiaphyseal Syndrome

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Symptoms by clinical synopsis from OMIM:

231095

Clinical features from OMIM:

231095

Symptoms:

 47 (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

HPO human phenotypes related to Ghosal Hematodiaphyseal Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 abnormality of the metaphyses hallmark (90%) HP:0000944
2 anemia hallmark (90%) HP:0001903
3 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
4 abnormality of the femur hallmark (90%) HP:0002823
5 abnormality of the tibia hallmark (90%) HP:0002992
6 abnormal cortical bone morphology hallmark (90%) HP:0003103
7 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
8 craniofacial hyperostosis hallmark (90%) HP:0004493
9 bowing of the long bones hallmark (90%) HP:0006487
10 abnormality of immune system physiology hallmark (90%) HP:0010978
11 splenomegaly occasional (7.5%) HP:0001744
12 neurological speech impairment occasional (7.5%) HP:0002167
13 leukopenia rare (5%) HP:0001882
14 autosomal recessive inheritance HP:0000007
15 thrombocytopenia HP:0001873
16 phenotypic variability HP:0003812
17 refractory anemia HP:0005505
18 bone marrow hypocellularity HP:0005528
19 hyperostosis cranialis interna HP:0005890
20 increased bone mineral density HP:0011001
21 myelofibrosis HP:0011974
22 diaphyseal dysplasia HP:0100252

Drugs & Therapeutics for Ghosal Hematodiaphyseal Syndrome

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Drug clinical trials:

Search ClinicalTrials for Ghosal Hematodiaphyseal Syndrome

Search NIH Clinical Center for Ghosal Hematodiaphyseal Syndrome

Genetic Tests for Ghosal Hematodiaphyseal Syndrome

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Anatomical Context for Ghosal Hematodiaphyseal Syndrome

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MalaCards organs/tissues related to Ghosal Hematodiaphyseal Syndrome:

31
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:

62
id Symbol AA change Variation ID SNP ID
1TBXAS1p.Leu82ProVAR_044386
2TBXAS1p.Arg412GlnVAR_044388
3TBXAS1p.Gly481TrpVAR_044389
4TBXAS1p.Leu487ProVAR_044390

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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Compounds for genes affiliated with Ghosal Hematodiaphyseal Syndrome

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GO Terms for genes affiliated with Ghosal Hematodiaphyseal Syndrome

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Products for genes affiliated with Ghosal Hematodiaphyseal Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ghosal Hematodiaphyseal Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet