HYPEROSTOSIS CORTICALIS GENERALISATA

General Information (adopted from Orphanet):

Synonyms, Signs: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE
VAN BUCHEM DISEASE
HYPERPHOSPHATASEMIA TARDA
VBCH
Number of Symptoms 8
OrphanetNr:
OMIM Id: 239100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004437) Cranial hyperostosis 55 / 7739
2
(HPO:0007958) Optic atrophy from cranial nerve compression 2 / 7739
3
(HPO:0000365) Hearing impairment 539 / 7739
4
(HPO:0006824) Cranial nerve paralysis 81 / 7739
5
(HPO:0002315) Headache 175 / 7739
6
(HPO:0000935) Thickened cortex of long bones 8 / 7739
7
(HPO:0011001) Increased bone mineral density 78 / 7739
8
(OMIM) Hyperphosphatasemia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Van Buchem disease is an autosomal recessive bone dysplasia characterized by a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well ...
Clinical Description OMIM Van Buchem et al. (1962) found osteosclerosis of the skull, mandible, clavicles, ribs, and diaphysis of the long bones beginning during puberty and sometimes leading to optic atrophy and perceptive deafness from nerve pressure. The same disorder was ...
Molecular genetics OMIM The possibility that sclerosteosis and van Buchem disease are caused by mutation in the same gene appeared to have been excluded by the study of Brunkow et al. (2001), in which mutations in the coding region of the ...