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 49 11 22
Ghosal Hematodiaphyseal Dysplasia 45 23 51 67 65
Ghosal Syndrome 45 22 23 51 24
Ghdd 45 23 67
Diaphyseal Dysplasia Associated with Anemia 23
 
Ghosal Hematodiaphyseal Dysplasia Syndrome 45
Ghosal-Type Hemato-Diaphyseal Dysplasia 23
Diaphyseal Dysplasia-Anemia Syndrome 51
Ghosal Hemato-Diaphyseal Dysplasia 23

Characteristics:

Orphanet epidemiological data:

51
ghosal hematodiaphyseal dysplasia:
Inheritance: Autosomal recessive

HPO:

61
ghosal hematodiaphyseal syndrome:
Onset and clinical course: phenotypic variability
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 231095
Orphanet51 1802
MedGen34 C1856465
UMLS65 C1856465

Summaries for Ghosal Hematodiaphyseal Syndrome

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UniProtKB/Swiss-Prot:67 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 whipple disease and persistent vegetative state, and has symptoms including abnormality of immune system physiology, bowing of the long bones and craniofacial hyperostosis. An important gene associated with Ghosal Hematodiaphyseal Syndrome is TBXAS1 (Thromboxane A Synthase 1). Affiliated tissues include bone and bone marrow.

Genetics Home Reference:23 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:68 Ghosal hematodiaphyseal dysplasia is a metabolic disorder. more...

Description from OMIM:49 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
1whipple disease10.6
2persistent vegetative state10.6
3alagille syndrome10.3

Symptoms for Ghosal Hematodiaphyseal Syndrome

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Symptoms by clinical synopsis from OMIM:

231095

Clinical features from OMIM:

231095

Symptoms:

 51 (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 19)
id Description Frequency HPO Source Accession
1 abnormality of immune system physiology hallmark (90%) HP:0010978
2 bowing of the long bones hallmark (90%) HP:0006487
3 craniofacial hyperostosis hallmark (90%) HP:0004493
4 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
5 abnormal cortical bone morphology hallmark (90%) HP:0003103
6 abnormality of the tibia hallmark (90%) HP:0002992
7 abnormality of the femur hallmark (90%) HP:0002823
8 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
9 abnormality of the metaphyses hallmark (90%) HP:0000944
10 neurological speech impairment occasional (7.5%) HP:0002167
11 splenomegaly occasional (7.5%) HP:0001744
12 leukopenia rare (5%) HP:0001882
13 diaphyseal dysplasia HP:0100252
14 myelofibrosis HP:0011974
15 increased bone mineral density HP:0011001
16 hyperostosis cranialis interna HP:0005890
17 bone marrow hypocellularity HP:0005528
18 refractory anemia HP:0005505
19 thrombocytopenia HP:0001873

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 Hematodiaphyseal Syndrome22 TBXAS1

Anatomical Context for Ghosal Hematodiaphyseal Syndrome

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MalaCards organs/tissues related to Ghosal Hematodiaphyseal Syndrome:

33
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:

67
id Symbol AA change Variation ID SNP ID
1TBXAS1p.Leu82ProVAR_044386
2TBXAS1p.Arg412GlnVAR_044388
3TBXAS1p.Gly481TrpVAR_044389
4TBXAS1p.Leu487ProVAR_044390

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet