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

Aliases & Descriptions for Ghosal Hematodiaphyseal Syndrome:

Name: Ghosal Hematodiaphyseal Syndrome 54 24 13
Ghosal Hematodiaphyseal Dysplasia 54 50 25 56 66 69
Ghosal Syndrome 50 24 25 56 29
Ghdd 50 25 66
Diaphyseal Dysplasia Associated with Anemia 25
Ghosal Hematodiaphyseal Dysplasia Syndrome 50
Ghosal-Type Hemato-Diaphyseal Dysplasia 25
Diaphyseal Dysplasia-Anemia Syndrome 56
Ghosal Hemato-Diaphyseal Dysplasia 25

Characteristics:

Orphanet epidemiological data:

56
ghosal hematodiaphyseal dysplasia
Inheritance: Autosomal recessive;

HPO:

32
ghosal hematodiaphyseal syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 231095
Orphanet 56 ORPHA1802
MedGen 40 C1856465

Summaries for Ghosal Hematodiaphyseal Syndrome

UniProtKB/Swiss-Prot : 66 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 neurological speech impairment, splenomegaly 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 : 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... more...

Description from OMIM: 231095

Related Diseases for Ghosal Hematodiaphyseal Syndrome

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

id Related Disease Score Top Affiliating Genes
1 myelofibrosis 10.2
2 myelophthisic anemia 10.2

Symptoms & Phenotypes for Ghosal Hematodiaphyseal Syndrome

Symptoms by clinical synopsis from OMIM:

231095

Clinical features from OMIM:

231095

Human phenotypes related to Ghosal Hematodiaphyseal Syndrome:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 56 32 Occasional (29-5%) HP:0002167
2 splenomegaly 56 32 Occasional (29-5%) HP:0001744
3 craniofacial hyperostosis 56 32 Very frequent (99-80%) HP:0004493
4 bowing of the long bones 56 32 Very frequent (99-80%) HP:0006487
5 abnormal cortical bone morphology 56 32 Very frequent (99-80%) HP:0003103
6 anemia 56 32 Very frequent (99-80%) HP:0001903
7 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
8 abnormal form of the vertebral bodies 56 32 Very frequent (99-80%) HP:0003312
9 diaphyseal thickening 56 32 Very frequent (99-80%) HP:0005019
10 abnormality of immune system physiology 56 32 Very frequent (99-80%) HP:0010978
11 abnormality of the femur 56 32 Very frequent (99-80%) HP:0002823
12 abnormality of pelvic girdle bone morphology 56 32 Very frequent (99-80%) HP:0002644
13 abnormality of the tibia 56 32 Very frequent (99-80%) HP:0002992
14 bone marrow hypocellularity 32 HP:0005528
15 thrombocytopenia 32 HP:0001873
16 increased bone mineral density 32 HP:0011001
17 leukopenia 32 HP:0001882
18 diaphyseal dysplasia 32 HP:0100252
19 myelofibrosis 32 HP:0011974
20 refractory anemia 32 HP:0005505
21 hyperostosis cranialis interna 32 HP:0005890

Drugs & Therapeutics for Ghosal Hematodiaphyseal Syndrome

Search Clinical Trials , NIH Clinical Center for Ghosal Hematodiaphyseal Syndrome

Genetic Tests for Ghosal Hematodiaphyseal Syndrome

Genetic tests related to Ghosal Hematodiaphyseal Syndrome:

id Genetic test Affiliating Genes
1 Ghosal Syndrome 29
2 Ghosal Hematodiaphyseal Syndrome 24 TBXAS1

Anatomical Context for Ghosal Hematodiaphyseal Syndrome

MalaCards organs/tissues related to Ghosal Hematodiaphyseal Syndrome:

39
Bone, Bone Marrow

Publications for Ghosal Hematodiaphyseal Syndrome

Variations for Ghosal Hematodiaphyseal Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ghosal Hematodiaphyseal Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 TBXAS1 p.Leu82Pro VAR_044386 rs140005285
2 TBXAS1 p.Arg412Gln VAR_044388 rs199422117
3 TBXAS1 p.Gly481Trp VAR_044389 rs199422116
4 TBXAS1 p.Leu487Pro VAR_044390 rs199422114

ClinVar genetic disease variations for Ghosal Hematodiaphyseal Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBXAS1 NM_001061.4(TBXAS1): c.1463T> C (p.Leu488Pro) single nucleotide variant Pathogenic rs199422114 GRCh37 Chromosome 7, 139717566: 139717566
2 TBXAS1 NM_001061.4(TBXAS1): c.1444G> T (p.Gly482Trp) single nucleotide variant Pathogenic rs199422116 GRCh37 Chromosome 7, 139717547: 139717547
3 TBXAS1 NM_001061.4(TBXAS1): c.1238G> A (p.Arg413Gln) single nucleotide variant Pathogenic rs199422117 GRCh37 Chromosome 7, 139715531: 139715531
4 TBXAS1 NM_001130966.2(TBXAS1): c.1423delG (p.Ala475Profs) deletion Pathogenic rs794727053 GRCh37 Chromosome 7, 139717526: 139717526

Expression for Ghosal Hematodiaphyseal Syndrome

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

Pathways for Ghosal Hematodiaphyseal Syndrome

GO Terms for Ghosal Hematodiaphyseal Syndrome

Sources for Ghosal Hematodiaphyseal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....