Ankylosing vertebral hyperostosis with tylosis

General Information (adopted from Orphanet):

Synonyms, Signs: DISH, INCLUDED
Number of Symptoms 9
OrphanetNr: 2206
OMIM Id: 106400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
2
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
3
 (HPO:0008442) Vertebral hyperostosis 3 / 7739
4
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
5
 (HPO:0005595) Generalized hyperkeratosis 14 / 7739
6
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
7
 (HPO:0007508) Punctate palmar and solar hyperkeratosis 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Ankylosing vertebral hyperostosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: