Ghosal hematodiaphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: GHDD
Diaphyseal dysplasia - anemia
ghosal syndrome
Number of Symptoms 28
OrphanetNr: 1802
OMIM Id: 231095
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with increased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
2
 (HPO:0005890) Hyperostosis cranialis interna Rare [HPO:skoehler] 2 / 7739
3
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
4
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
5
 (HPO:0011001) Increased bone mineral density 78 / 7739
6
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
7
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
8
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
9
 (HPO:0100252) Diaphyseal dysplasia 4 / 7739
10
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
11
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
12
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
13
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
14
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
15
 (HPO:0005528) Bone marrow hypocellularity 31 / 7739
16
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
17
 (HPO:0011974) Myelofibrosis 6 / 7739
18
 (HPO:0001873) Thrombocytopenia 224 / 7739
19
 (HPO:0001876) Pancytopenia 89 / 7739
20
 (HPO:0001882) Leukopenia rare [HPO:skoehler] 51 / 7739
21
 (HPO:0005505) Refractory anemia 2 / 7739
22
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
23
 (OMIM) Cortical hyperostosis 3 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (HPO:0003812) Phenotypic variability 129 / 7739
26
 (OMIM) Anemia, corticosteroid-sensitive 1 / 7739
27
 (OMIM) Thick long bones of the extremities 1 / 7739
28
 (OMIM) Wide diaphyseal medullary cavities 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ghosal et al. (1988) presented 5 patients with a particular form of diaphyseal dysplasia and refractory anemia. In spite of certain similarities to Camurati-Engelmann disease (131300), major differences were noted. Most notably, in Camurati-Engelmann disease, only the diaphyses ...
Molecular genetics OMIM In the Algerian and Tunisian families with GHDD studied by Isidor et al. (2007) and in 2 more families of Tunisian and Pakistani origin, Genevieve et al. (2008) identified mutations in the TBXAS1 gene (274180), which encodes thromboxane ...