GHDD
MCID: GHS004
MIFTS: 24

Ghosal Hematodiaphyseal Syndrome (GHDD) 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 52 24 12
Ghosal Hematodiaphyseal Dysplasia 52 48 25 54 70 68
Ghosal Syndrome 48 24 25 54 27
Ghdd 48 25 70
Diaphyseal Dysplasia Associated with Anemia 25
 
Ghosal Hematodiaphyseal Dysplasia Syndrome 48
Ghosal-Type Hemato-Diaphyseal Dysplasia 25
Diaphyseal Dysplasia-Anemia Syndrome 54
Ghosal Hemato-Diaphyseal Dysplasia 25

Characteristics:

Orphanet epidemiological data:

54
ghosal hematodiaphyseal dysplasia:
Inheritance: Autosomal recessive

HPO:

64
ghosal hematodiaphyseal syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 231095
Orphanet54 ORPHA1802
MedGen37 C1856465

Summaries for Ghosal Hematodiaphyseal Syndrome

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UniProtKB/Swiss-Prot:70 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 Array, Array and Array. 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:71 Ghosal hematodiaphyseal dysplasia is a metabolic disorder. more...

Description from OMIM:52 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 & Phenotypes 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:

 54 64 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
2 splenomegaly64 54 Occasional (29-5%) HP:0001744
3 anemia64 54 Very frequent (99-80%) HP:0001903
4 neurological speech impairment64 54 Occasional (29-5%) HP:0002167
5 abnormality of pelvic girdle bone morphology64 54 Very frequent (99-80%) HP:0002644
6 abnormality of the femur64 54 Very frequent (99-80%) HP:0002823
7 abnormality of the tibia64 54 Very frequent (99-80%) HP:0002992
8 abnormal cortical bone morphology64 54 Very frequent (99-80%) HP:0003103
9 abnormal form of the vertebral bodies64 54 Very frequent (99-80%) HP:0003312
10 craniofacial hyperostosis64 54 Very frequent (99-80%) HP:0004493
11 diaphyseal thickening64 54 Very frequent (99-80%) HP:0005019
12 bowing of the long bones64 54 Very frequent (99-80%) HP:0006487
13 abnormality of immune system physiology64 54 Very frequent (99-80%) HP:0010978
14 thrombocytopenia64 HP:0001873
15 leukopenia64 HP:0001882
16 refractory anemia64 HP:0005505
17 bone marrow hypocellularity64 HP:0005528
18 hyperostosis cranialis interna64 HP:0005890
19 increased bone mineral density64 HP:0011001
20 myelofibrosis64 HP:0011974
21 diaphyseal dysplasia64 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 Syndrome27
2 Ghosal Hematodiaphyseal Syndrome24 TBXAS1

Anatomical Context for Ghosal Hematodiaphyseal Syndrome

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MalaCards organs/tissues related to Ghosal Hematodiaphyseal Syndrome:

36
Bone, Bone marrow

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:

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet