MCID: AXL003
MIFTS: 33

Axial Osteomalacia

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Axial Osteomalacia

MalaCards integrated aliases for Axial Osteomalacia:

Name: Axial Osteomalacia 57 12 76 53 15 73
Atypical Osteomalacia Involving the Axial Skeleton 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? same as osteomesopyknosis (166450)


HPO:

32
axial osteomalacia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 109130
Disease Ontology 12 DOID:0080039
MedGen 42 C1862372
UMLS 73 C1862372

Summaries for Axial Osteomalacia

Disease Ontology : 12 An osteosclerosis that results in coarsening located in trabecular bone.

MalaCards based summary : Axial Osteomalacia, also known as atypical osteomalacia involving the axial skeleton, is related to osteomalacia and extraskeletal chondroma. An important gene associated with Axial Osteomalacia is MRAP (Melanocortin 2 Receptor Accessory Protein), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include bone, liver and kidney, and related phenotypes are myopathy and elevated serum creatine phosphokinase

Wikipedia : 76 Osteomalacia is the softening of the bones caused by impaired bone metabolism primarily due to... more...

Description from OMIM: 109130

Related Diseases for Axial Osteomalacia

Graphical network of the top 20 diseases related to Axial Osteomalacia:



Diseases related to Axial Osteomalacia

Symptoms & Phenotypes for Axial Osteomalacia

Symptoms via clinical synopsis from OMIM:

57
Muscle:
myopathy
proximal muscle weakness

Misc:
associated polycystic kidney and liver disease

Lab:
normal blood calcium, inorganic phosphate and alkaline phosphatase
osteomalacia on bone biopsy
elevated circulating creatine phosphokinase
myopathic changes on muscle biopsy

Skel:
osteosclerosis
vague chronic axial skeletal pain

Radiology:
unique coarsening and spongelike appearance of trabecular bone of axial skeleton
normal skull and appendicular skeleton


Clinical features from OMIM:

109130

Human phenotypes related to Axial Osteomalacia:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 myopathy 32 HP:0003198
2 elevated serum creatine phosphokinase 32 HP:0003236
3 osteomalacia 32 HP:0002749
4 increased bone mineral density 32 HP:0011001
5 proximal muscle weakness 32 HP:0003701
6 renal cyst 32 HP:0000107
7 polycystic liver disease 32 HP:0006557

Drugs & Therapeutics for Axial Osteomalacia

Search Clinical Trials , NIH Clinical Center for Axial Osteomalacia

Genetic Tests for Axial Osteomalacia

Anatomical Context for Axial Osteomalacia

MalaCards organs/tissues related to Axial Osteomalacia:

41
Bone, Liver, Kidney

The Foundational Model of Anatomy Ontology organs/tissues related to Axial Osteomalacia:

19
Trabecular Bone

Publications for Axial Osteomalacia

Articles related to Axial Osteomalacia:

(show all 11)
# Title Authors Year
1
Axial osteomalacia: a new case report. ( 20591721 )
2010
2
Atypical axial osteomalacia: report of a HLA-B27 negative elderly female patient without features of sacroiliitis. ( 16173260 )
2005
3
Axial osteomalacia with sacroiliitis and moderate phosphate diabetes: report of a case. ( 11072608 )
2000
4
Axial osteomalacia: report of a new case with selective increase in axial bone mineral density. ( 8806007 )
1996
5
Central and peripheral bone biopsy in a patient with axial osteomalacia. ( 4080052 )
1985
6
Axial osteomalacia. Clinical, laboratory and genetic investigation of an affected mother and son. ( 7315848 )
1981
7
[Axial osteomalacia. Comparative analysis with fibrogenesis imperfecta ossium (author's transl)]. ( 7205749 )
1981
8
Atypical axial osteomalacia. Report of four cases with two having features of ankylosing spondylitis. ( 737002 )
1978
9
Axial osteomalacia. ( 5138754 )
1971
10
Atypical axial osteomalacia. A report of three cases. ( 13895537 )
1962
11
Atypical osteomalacia involving the axial skeleton. ( 13894454 )
1961

Variations for Axial Osteomalacia

Expression for Axial Osteomalacia

Search GEO for disease gene expression data for Axial Osteomalacia.

Pathways for Axial Osteomalacia

GO Terms for Axial Osteomalacia

Biological processes related to Axial Osteomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.37 BGLAP PTH
2 skeletal system development GO:0001501 9.32 BGLAP PTH
3 response to ethanol GO:0045471 9.26 BGLAP PTH
4 response to nutrient levels GO:0031667 9.16 BGLAP PTH
5 bone mineralization GO:0030282 8.96 BGLAP PTH
6 response to vitamin D GO:0033280 8.62 BGLAP PTH

Sources for Axial Osteomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....