MCID: OST117
MIFTS: 23

Osteomesopyknosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Osteomesopyknosis

MalaCards integrated aliases for Osteomesopyknosis:

Name: Osteomesopyknosis 56 52 58
Axial Osteosclerosis 56 74 52 58 71

Characteristics:

Orphanet epidemiological data:

58
osteomesopyknosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
osteomesopyknosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 166450
ICD10 via Orphanet 33 Q78.2
UMLS via Orphanet 72 C0432264
Orphanet 58 ORPHA2777
MedGen 41 C0432264
UMLS 71 C0432264

Summaries for Osteomesopyknosis

NIH Rare Diseases : 52 Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified. It is generally benign and life expectancy is normal.

MalaCards based summary : Osteomesopyknosis, also known as axial osteosclerosis, is related to endosteal hyperostosis, autosomal dominant and back pain. Affiliated tissues include bone and cortex, and related phenotypes are increased bone mineral density and scoliosis

Wikipedia : 74 Osteosclerosis is a disorder that is characterized by abnormal hardening of bone and an elevation in... more...

More information from OMIM: 166450

Related Diseases for Osteomesopyknosis

Diseases related to Osteomesopyknosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 endosteal hyperostosis, autosomal dominant 10.6
2 back pain 10.4
3 bone disease 10.2
4 osteopetrosis 10.2
5 hyperostosis 10.2
6 primary bone dysplasia with increased bone density 10.2

Graphical network of the top 20 diseases related to Osteomesopyknosis:



Diseases related to Osteomesopyknosis

Symptoms & Phenotypes for Osteomesopyknosis

Human phenotypes related to Osteomesopyknosis:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
4 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
5 sclerotic vertebral body 31 frequent (33%) HP:0100861
6 abnormal cortical bone morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003103
7 abnormality of metabolism/homeostasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001939
8 infertility 31 HP:0000789
9 vertebral body sclerosis 58 Frequent (79-30%)
10 low back pain 31 HP:0003419

Symptoms via clinical synopsis from OMIM:

56
G U:
infertility
ovarian sclerosis

Skel:
low back pain
pelvic pain
osteosclerosis of pelvis, spine, and femoral head

Clinical features from OMIM:

166450

Drugs & Therapeutics for Osteomesopyknosis

Search Clinical Trials , NIH Clinical Center for Osteomesopyknosis

Genetic Tests for Osteomesopyknosis

Anatomical Context for Osteomesopyknosis

MalaCards organs/tissues related to Osteomesopyknosis:

40
Bone, Cortex

Publications for Osteomesopyknosis

Articles related to Osteomesopyknosis:

(show all 22)
# Title Authors PMID Year
1
Osteomesopyknosis. Case report. 61 56
3980516 1985
2
Osteomesopyknosis: an autosomal dominant osteosclerosis. 61 56
7234905 1981
3
[Axial osteosclerosis with autosomal dominant transmission: a new entity?]. 61 56
504945 1979
4
Axial osteomalacia. Clinical, laboratory and genetic investigation of an affected mother and son. 56
7315848 1981
5
[Osteomesopycnosis. A new autosomal dominant osteosclerosing bone disease (author's transl)]. 56
7469692 1980
6
Osteomesopyknosis--a benign axial hyperostosis that can mimic metastatic disease. 61
26185059 2016
7
A First Case of Osteomesopyknosis in Korea. 61
26082918 2015
8
Osteomesopyknosis: a case report and review of sclerosing bone disorders. 61
24641920 2014
9
Osteomesopyknosis: an incidental discovery due to back pain. 61
22858149 2013
10
Skeletal fluorosis from instant tea. 61
18179362 2008
11
Recovery from skeletal fluorosis (an enigmatic, American case). 61
17014382 2007
12
[Osteomesopyknosis]. 61
11528817 2001
13
Central nervous system dysmyelination in PIBI(D)S syndrome: a further case. 61
8674078 1996
14
Osteomesopyknosis: report of a new case with bone histology. 61
8024856 1994
15
Radiological spectrum of endemic fluorosis: relationship with calcium intake. 61
8316868 1993
16
Osteomesopyknosis: a benign familial disorder of bone. 61
1643784 1992
17
Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature. 61
2692405 1989
18
[Osteomesopyknosis]. 61
2704857 1989
19
Osteomesopyknosis. Report of two new cases. 61
2711206 1989
20
Osteomesopyknosis: benign axial osteosclerosis. 61
3191321 1988
21
The trichothiodystrophy syndrome of Pollitt. 61
3353149 1988
22
Procollagen type I carboxy-terminal extension peptide in serum as a marker of collagen biosynthesis in bone. Correlation with Iliac bone formation rates and comparison with total alkaline phosphatase. 61
3455625 1987

Variations for Osteomesopyknosis

Expression for Osteomesopyknosis

Search GEO for disease gene expression data for Osteomesopyknosis.

Pathways for Osteomesopyknosis

GO Terms for Osteomesopyknosis

Sources for Osteomesopyknosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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