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 51 24 12
Ghosal Hematodiaphyseal Dysplasia 51 47 25 53 69 67
Ghosal Syndrome 47 24 25 53 26
Ghdd 47 25 69
Diaphyseal Dysplasia Associated with Anemia 25
 
Ghosal Hematodiaphyseal Dysplasia Syndrome 47
Ghosal-Type Hemato-Diaphyseal Dysplasia 25
Diaphyseal Dysplasia-Anemia Syndrome 53
Ghosal Hemato-Diaphyseal Dysplasia 25

Characteristics:

Orphanet epidemiological data:

53
ghosal hematodiaphyseal dysplasia:
Inheritance: Autosomal recessive

HPO:

63
ghosal hematodiaphyseal syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM51 231095
Orphanet53 ORPHA1802
MedGen36 C1856465

Summaries for Ghosal Hematodiaphyseal Syndrome

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UniProtKB/Swiss-Prot:69 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: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:70 Ghosal hematodiaphyseal dysplasia is a metabolic disorder. more...

Description from OMIM:51 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
1myelofibrosis10.2
2myelophthisic anemia10.2

Symptoms for Ghosal Hematodiaphyseal Syndrome

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Symptoms by clinical synopsis from OMIM:

231095

Clinical features from OMIM:

231095

Human phenotypes related to Ghosal Hematodiaphyseal Syndrome:

 63 53 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
2 abnormality of pelvic girdle bone morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0002644
3 abnormality of the femur63 53 hallmark (90%) Very frequent (99-80%) HP:0002823
4 abnormality of the tibia63 53 hallmark (90%) Very frequent (99-80%) HP:0002992
5 abnormal cortical bone morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0003103
6 abnormal form of the vertebral bodies63 53 hallmark (90%) Very frequent (99-80%) HP:0003312
7 craniofacial hyperostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0004493
8 bowing of the long bones63 53 hallmark (90%) Very frequent (99-80%) HP:0006487
9 abnormality of immune system physiology63 53 hallmark (90%) Very frequent (99-80%) HP:0010978
10 splenomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001744
11 neurological speech impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0002167
12 leukopenia63 rare (5%) HP:0001882
13 thrombocytopenia63 HP:0001873
14 refractory anemia63 HP:0005505
15 bone marrow hypocellularity63 HP:0005528
16 hyperostosis cranialis interna63 HP:0005890
17 increased bone mineral density63 HP:0011001
18 myelofibrosis63 HP:0011974
19 diaphyseal dysplasia63 HP:0100252
20 anemia53 Very frequent (99-80%)
21 diaphyseal thickening53 Very frequent (99-80%)

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 Syndrome26
2 Ghosal Hematodiaphyseal Syndrome24 TBXAS1

Anatomical Context for Ghosal Hematodiaphyseal Syndrome

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MalaCards organs/tissues related to Ghosal Hematodiaphyseal Syndrome:

35
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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet