AXIAL OSTEOMALACIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 109130
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000107) Renal cyst 126 / 7739
2
 (HPO:0011001) Increased bone mineral density 78 / 7739
3
 (HPO:0002749) Osteomalacia 24 / 7739
4
 (HPO:0006557) Polycystic liver disease 5 / 7739
5
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
6
 (HPO:0003701) Proximal muscle weakness 105 / 7739
7
 (HPO:0003198) Myopathy 151 / 7739
8
 (OMIM) Vague chronic axial skeletal pain 1 / 7739
9
 (OMIM) Normal skull and appendicular skeleton 1 / 7739
10
 (OMIM) Normal blood calcium, inorganic phosphate and alkaline phosphatase 1 / 7739
11
 (OMIM) Unique coarsening and spongelike appearance of trabecular bone of axial skeleton 1 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (OMIM) Osteomalacia on bone biopsy 1 / 7739
14
 (OMIM) Myopathic changes on muscle biopsy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: