GHDD
MCID: GHS005
MIFTS: 42

Ghosal Hematodiaphyseal Dysplasia (GHDD)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Ghosal Hematodiaphyseal Dysplasia

MalaCards integrated aliases for Ghosal Hematodiaphyseal Dysplasia:

Name: Ghosal Hematodiaphyseal Dysplasia 57 11 19 42 58 73 28 5 71 75
Ghosal Syndrome 57 11 19 42 58 12
Ghosal Hematodiaphyseal Syndrome 57 11 5 14 38
Ghdd 57 19 42 73
Diaphyseal Dysplasia-Anemia Syndrome 11 58
Diaphyseal Dysplasia Associated with Anemia 42
Ghosal Hematodiaphyseal Dysplasia Syndrome 19
Ghosal-Type Hemato-Diaphyseal Dysplasia 42
Ghosal Hemato-Diaphyseal Dysplasia 42

Characteristics:


Inheritance:

Autosomal recessive 58 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
anemia is responsive to corticosteroid treatment
most patients present in infancy with anemia


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0112251
OMIM® 57 231095
UMLS via Orphanet 72 C1856465
Orphanet 58 ORPHA1802
MedGen 40 C1856465
UMLS 71 C1856465

Summaries for Ghosal Hematodiaphyseal Dysplasia

MedlinePlus Genetics: 42 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.In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking.Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones where blood cells are formed. The abnormal bone marrow cannot produce enough red blood cells, which leads to anemia. Signs and symptoms of anemia that have been reported in people with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and excessive tiredness (fatigue).

MalaCards based summary: Ghosal Hematodiaphyseal Dysplasia, also known as ghosal syndrome, is related to camurati-engelmann disease and myelofibrosis. An important gene associated with Ghosal Hematodiaphyseal Dysplasia is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Type I collagen synthesis in the context of osteogenesis imperfecta. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are craniofacial hyperostosis and bowing of the long bones

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has material basis in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34.

OMIM®: 57 Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia (summary by Genevieve et al., 2008). (231095) (Updated 08-Dec-2022)

GARD: 19 Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

Orphanet: 58 Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

Wikipedia: 75 Ghosal hematodiaphyseal dysplasia, is a rare, autosomal recessive disease, characterized by diaphyseal... more...

Related Diseases for Ghosal Hematodiaphyseal Dysplasia

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 camurati-engelmann disease 31.0 TNFRSF11B TBXAS1
2 myelofibrosis 10.5
3 deficiency anemia 10.5
4 refractory anemia 10.5
5 splenomegaly 10.4
6 pyle disease 10.4
7 metaphyseal dysplasia 10.4
8 aplastic anemia 10.3
9 pancytopenia 10.3
10 thrombocytopenia 10.3
11 hyperostosis 10.3
12 myelophthisic anemia 10.3
13 temporomandibular joint anomaly 10.2 TNFSF11 TNFRSF11B
14 periodontitis, chronic 10.2 TNFSF11 TNFRSF11B
15 paget disease of bone 5, juvenile-onset 10.2 TNFSF11 TNFRSF11B
16 multicentric carpotarsal osteolysis syndrome 10.2 TNFSF11 TNFRSF11B
17 familial expansile osteolysis 10.2 TNFSF11 TNFRSF11B
18 mammary paget's disease 10.1 TNFSF11 TNFRSF11B
19 benign giant cell tumor 10.1 TNFSF11 TNFRSF11B
20 hermansky-pudlak syndrome due to bloc-2 deficiency 10.1 HPS6 HPS5
21 root resorption 10.1 TNFSF11 TNFRSF11B
22 renal osteodystrophy 10.1 TNFSF11 TNFRSF11B
23 hermansky-pudlak syndrome 5 10.1 HPS6 HPS5
24 hermansky-pudlak syndrome 6 10.1 HPS6 HPS5
25 ankylosis 10.1 TNFSF11 TNFRSF11B
26 storage pool platelet disease 10.1 HPS6 HPS5
27 bleeding disorder, platelet-type, 8 10.1 HPS6 HPS5
28 paget's disease of bone 10.1 TNFSF11 TNFRSF11B
29 albinism, oculocutaneous, type iv 10.1 HPS6 HPS5
30 griscelli syndrome, type 1 10.1 HPS6 HPS5
31 griscelli syndrome 10.1 HPS6 HPS5
32 pathologic nystagmus 10.1 HPS6 HPS5
33 craniometaphyseal dysplasia, autosomal dominant 10.1 TNFSF11 TNFRSF11B
34 albinism, oculocutaneous, type ii 10.1 HPS6 HPS5
35 albinism, oculocutaneous, type iii 10.1 HPS6 HPS5
36 congenital nystagmus 10.1 HPS6 HPS5
37 hermansky-pudlak syndrome 3 10.1 HPS6 HPS5
38 bleeding disorder, platelet-type, 14 10.0 TBXAS1 HPS6 HPS5
39 hermansky-pudlak syndrome 1 10.0 HPS6 HPS5
40 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.0 HBG2 HBG1
41 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.0 HBG2 HBG1
42 sickle cell disease 10.0 HBG2 HBG1
43 chediak-higashi syndrome 10.0 HPS6 HPS5
44 autosomal dominant beta thalassemia 10.0 HBG2 HBG1
45 alpha-thalassemia myelodysplasia syndrome 10.0 HBG2 HBG1
46 hemoglobin c disease 10.0 HBG2 HBG1
47 thalassemia minor 10.0 HBG2 HBG1
48 beta-thalassemia intermedia 10.0 HBG2 HBG1
49 fetal hemoglobin quantitative trait locus 1 9.9 HBG2 HBG1
50 blood protein disease 9.8 HBG2 HBG1

Graphical network of the top 20 diseases related to Ghosal Hematodiaphyseal Dysplasia:



Diseases related to Ghosal Hematodiaphyseal Dysplasia

Symptoms & Phenotypes for Ghosal Hematodiaphyseal Dysplasia

Human phenotypes related to Ghosal Hematodiaphyseal Dysplasia:

58 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004493
2 bowing of the long bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006487
3 abnormal cortical bone morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003103
4 anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001903
5 abnormal form of the vertebral bodies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003312
6 diaphyseal thickening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005019
7 abnormality of immune system physiology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010978
8 abnormality of femur morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002823
9 abnormality of tibia morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002992
10 abnormal pelvic girdle bone morphology 30 Hallmark (90%) HP:0002644
11 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
12 neurological speech impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002167
13 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
14 leukopenia 30 Occasional (7.5%) HP:0001882
15 hyperostosis cranialis interna 30 Occasional (7.5%) HP:0005890
16 abnormality of the metaphysis 58 Very frequent (99-80%)
17 thrombocytopenia 30 HP:0001873
18 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)
19 increased bone mineral density 30 HP:0011001
20 bone marrow hypocellularity 30 HP:0005528
21 myelofibrosis 30 HP:0011974
22 refractory anemia 30 HP:0005505
23 diaphyseal dysplasia 30 HP:0100252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
thrombocytopenia
myelofibrosis
anemia, corticosteroid-sensitive
leukopenia (less common)
hypocellular bone marrow

Skeletal:
increased bone density

Skeletal Limbs:
diaphyseal dysplasia
cortical hyperostosis
thick long bones of the extremities
wide diaphyseal medullary cavities

Clinical features from OMIM®:

231095 (Updated 08-Dec-2022)

Drugs & Therapeutics for Ghosal Hematodiaphyseal Dysplasia

Search Clinical Trials, NIH Clinical Center for Ghosal Hematodiaphyseal Dysplasia

Genetic Tests for Ghosal Hematodiaphyseal Dysplasia

Genetic tests related to Ghosal Hematodiaphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Ghosal Hematodiaphyseal Dysplasia 28 TBXAS1

Anatomical Context for Ghosal Hematodiaphyseal Dysplasia

Organs/tissues related to Ghosal Hematodiaphyseal Dysplasia:

MalaCards : Bone, Bone Marrow, Skin
ODiseA: Blood And Bone Marrow

Publications for Ghosal Hematodiaphyseal Dysplasia

Articles related to Ghosal Hematodiaphyseal Dysplasia:

(show all 21)
# Title Authors PMID Year
1
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). 62 57 5
18264100 2008
2
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. 62 57 5
17203301 2007
3
Diaphyseal dysplasia associated with anemia. 62 57
3385529 1988
4
Ghosal haemato-diaphyseal dysplasia: a new disorder. 57
8444247 1993
5
High-dose intravenous methylprednisolone therapy for anemia associated with diaphyseal dysplasia. 57
2715908 1989
6
Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report. 62
35395429 2022
7
A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia. 62
33244729 2021
8
Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids. 62
33595912 2021
9
Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy. 62
33185009 2021
10
Ghosal Hematodiaphyseal Dysplasia: A Case Report. 62
32461797 2020
11
Ghosal hematodiaphyseal dysplasia with autoimmune anemia in two adult siblings. 62
31395426 2019
12
Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency. 62
28868793 2018
13
Ghosal Hemato-diaphyseal Dysplasia: A Rare Variety of Hypoplastic Anemia with Good Response to Steroid Therapy. 62
29398828 2018
14
Ghosal Syndrome--Ten Years Follow-up. 62
25598443 2015
15
Steroid-responsive anemia in patients of Ghosal hematodiaphyseal dysplasia: simple to diagnose and easy to treat. 62
25374284 2015
16
Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient. 62
25172219 2015
17
Ghosal hematodiaphyseal dysplasia with myelofibrosis. 62
22983925 2013
18
Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia. 62
20672367 2010
19
Heritable sclerosing bone disorders: presentation and new molecular mechanisms. 62
20392246 2010
20
Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease. 62
17401271 2007
21
Early manifestation of Ghosal-type hemato-diaphyseal dysplasia. 62
12775540 2003

Variations for Ghosal Hematodiaphyseal Dysplasia

ClinVar genetic disease variations for Ghosal Hematodiaphyseal Dysplasia:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBXAS1 NM_001061.7(TBXAS1):c.1460T>C (p.Leu487Pro) SNV Pathogenic
11886 rs199422114 GRCh37: 7:139717566-139717566
GRCh38: 7:140017766-140017766
2 TBXAS1 NM_001061.7(TBXAS1):c.245T>C (p.Leu82Pro) SNV Pathogenic
11887 rs140005285 GRCh37: 7:139611032-139611032
GRCh38: 7:139911233-139911233
3 TBXAS1 NM_001061.7(TBXAS1):c.1441G>T (p.Gly481Trp) SNV Pathogenic
11888 rs199422116 GRCh37: 7:139717547-139717547
GRCh38: 7:140017747-140017747
4 TBXAS1 NM_001061.7(TBXAS1):c.193G>T (p.Glu65Ter) SNV Pathogenic
1031016 rs775012519 GRCh37: 7:139575393-139575393
GRCh38: 7:139875594-139875594
5 TBXAS1 NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) SNV Pathogenic/Likely Pathogenic
Conflicting Interpretations Of Pathogenicity
11889 rs199422117 GRCh37: 7:139715531-139715531
GRCh38: 7:140015731-140015731
6 TBXAS1 NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) SNV Likely Pathogenic
626181 rs149988492 GRCh37: 7:139717523-139717523
GRCh38: 7:140017723-140017723
7 TBXAS1 NM_001061.7(TBXAS1):c.859C>T (p.His287Tyr) SNV Likely Pathogenic
1695387 GRCh37: 7:139661757-139661757
GRCh38: 7:139961958-139961958
8 TBXAS1 NM_001061.7(TBXAS1):c.122_135del (p.Lys41fs) DEL Likely Pathogenic
992886 GRCh37: 7:139572063-139572076
GRCh38: 7:139872264-139872277
9 TBXAS1 NM_001061.7(TBXAS1):c.1420del (p.Ala474fs) DEL Likely Pathogenic
194017 rs794727053 GRCh37: 7:139717523-139717523
GRCh38: 7:140017723-140017723
10 TBXAS1 NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs) DEL Likely Pathogenic
626225 rs760698812 GRCh37: 7:139655297-139655298
GRCh38: 7:139955498-139955499
11 TBXAS1 NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser) SNV Uncertain Significance
1575649 GRCh37: 7:139657478-139657478
GRCh38: 7:139957679-139957679
12 TBXAS1 NM_001061.7(TBXAS1):c.790G>T (p.Ala264Ser) SNV Uncertain Significance
432476 rs376564758 GRCh37: 7:139657534-139657534
GRCh38: 7:139957735-139957735
13 TBXAS1 NM_001061.7(TBXAS1):c.1420G>A (p.Ala474Thr) SNV Uncertain Significance
1184409 GRCh37: 7:139717526-139717526
GRCh38: 7:140017726-140017726
14 TBXAS1 NM_001061.7(TBXAS1):c.1066C>G (p.Leu356Val) SNV Benign
498646 rs4529 GRCh37: 7:139661964-139661964
GRCh38: 7:139962165-139962165

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

73
# 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

Expression for Ghosal Hematodiaphyseal Dysplasia

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

Pathways for Ghosal Hematodiaphyseal Dysplasia

Pathways related to Ghosal Hematodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 TNFSF11 TNFRSF11B
2 10.14 TNFSF11 TNFRSF11B

GO Terms for Ghosal Hematodiaphyseal Dysplasia

Cellular components related to Ghosal Hematodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemoglobin complex GO:0005833 9.46 HBG2 HBG1
2 haptoglobin-hemoglobin complex GO:0031838 9.26 HBG2 HBG1
3 BLOC-2 complex GO:0031084 8.92 HPS6 HPS5

Biological processes related to Ghosal Hematodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrogen peroxide catabolic process GO:0042744 9.67 HBG2 HBG1
2 platelet dense granule organization GO:0060155 9.62 HPS6 HPS5
3 melanosome assembly GO:1903232 9.56 HPS6 HPS5
4 pigmentation GO:0043473 9.4 HPS6 HPS5
5 organelle organization GO:0006996 9.33 HPS6 HPS5
6 oxygen transport GO:0015671 9.26 HBG2 HBG1
7 carbon dioxide transport GO:0015670 8.92 HBG2 HBG1

Molecular functions related to Ghosal Hematodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.8 TBXAS1 HBG2 HBG1
2 oxygen binding GO:0019825 9.67 HBG2 HBG1
3 oxygen carrier activity GO:0005344 9.56 HBG2 HBG1
4 organic acid binding GO:0043177 9.46 HBG2 HBG1
5 haptoglobin binding GO:0031720 9.26 HBG2 HBG1
6 hemoglobin alpha binding GO:0031721 8.92 HBG2 HBG1

Sources for Ghosal Hematodiaphyseal Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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