MCID: AXL003
MIFTS: 32

Axial Osteomalacia

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Axial Osteomalacia

MalaCards integrated aliases for Axial Osteomalacia:

Name: Axial Osteomalacia 58 12 77 54 15 74
Atypical Osteomalacia Involving the Axial Skeleton 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
? same as osteomesopyknosis (166450)


HPO:

33
axial osteomalacia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080039
OMIM 58 109130
MedGen 43 C1862372
UMLS 74 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 spondyloarthropathy 1. 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, kidney and liver, and related phenotypes are myopathy and osteomalacia

Wikipedia : 77 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

Human phenotypes related to Axial Osteomalacia:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 myopathy 33 HP:0003198
2 osteomalacia 33 HP:0002749
3 increased bone mineral density 33 HP:0011001
4 proximal muscle weakness 33 HP:0003701
5 renal cyst 33 HP:0000107
6 polycystic liver disease 33 HP:0006557
7 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Bone, Kidney, Liver

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

20
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 8.65 BGLAP
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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