OSMD
MCID: OST168
MIFTS: 22

Osteosclerotic Metaphyseal Dysplasia (OSMD)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Osteosclerotic Metaphyseal Dysplasia

MalaCards integrated aliases for Osteosclerotic Metaphyseal Dysplasia:

Name: Osteosclerotic Metaphyseal Dysplasia 57 58 6 70
Osmd 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
four patients reported (last curated april 2013)


HPO:

31
osteosclerotic metaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 615198
Orphanet 58 ORPHA500548
MedGen 41 C3554665
UMLS 70 C3554665

Summaries for Osteosclerotic Metaphyseal Dysplasia

OMIM® : 57 Osteosclerotic metaphyseal dysplasia is a rare condition characterized by developmental delay, hypotonia, and distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. The skull appears to be spared. Seizures and later-onset spastic paraplegia have been reported. Laboratory abnormalities include elevated alkaline phosphatase levels in some, but not all, patients. Elevated urinary pyridinoline and deoxypyridinoline levels, markers of osteoclastic activity, have also been reported (summary by Nishimura and Kozlowski, 1993 and Kasapkara et al., 2013). (615198) (Updated 05-Apr-2021)

MalaCards based summary : Osteosclerotic Metaphyseal Dysplasia, also known as osmd, is related to metaphyseal dysplasia and hypotonia. An important gene associated with Osteosclerotic Metaphyseal Dysplasia is LRRK1 (Leucine Rich Repeat Kinase 1). Affiliated tissues include bone, and related phenotypes are intellectual disability and elevated alkaline phosphatase

Related Diseases for Osteosclerotic Metaphyseal Dysplasia

Diseases related to Osteosclerotic Metaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 metaphyseal dysplasia 10.6
2 hypotonia 10.5
3 osteopetrosis 10.3
4 paraplegia 10.3
5 acroosteolysis 10.1
6 pycnodysostosis 10.1
7 osteopetrosis, autosomal recessive 6 10.1
8 autosomal recessive disease 10.1
9 bone disease 10.1
10 bone resorption disease 10.1
11 osteonecrosis 10.1
12 spastic paraplegia 18 10.1
13 seizure disorder 10.1

Graphical network of the top 20 diseases related to Osteosclerotic Metaphyseal Dysplasia:



Diseases related to Osteosclerotic Metaphyseal Dysplasia

Symptoms & Phenotypes for Osteosclerotic Metaphyseal Dysplasia

Human phenotypes related to Osteosclerotic Metaphyseal Dysplasia:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 elevated alkaline phosphatase 31 occasional (7.5%) HP:0003155
3 seizure 31 occasional (7.5%) HP:0001250
4 global developmental delay 31 HP:0001263
5 generalized hypotonia 31 HP:0001290
6 metaphyseal dysplasia 31 HP:0100255
7 clavicular sclerosis 31 HP:0100923

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hypotonia
developmental delay
mental retardation (in one patient)
seizures (in one patient)
spastic paraplegia, later onset (in one patient)

Chest Ribs Sternum Clavicles And Scapulae:
osteosclerosis of the anterior and posterior ribs
osteosclerosis of the clavicles
osteosclerosis of the scapulae

Skeletal Spine:
osteosclerosis of vertebrae

Skeletal Limbs:
osteosclerosis of the metaphyses of the long bones of the upper and lower extremities
osteopenic shafts of long bones

Skeletal Feet:
osteosclerosis of the talus
osteosclerosis of the calcaneus

Growth Height:
short stature (<3rd centile, in one patient)

Skeletal Skull:
no osteosclerosis

Skeletal Pelvis:
osteosclerosis of the iliac crests
osteosclerosis of the ischium
osteosclerosis of the pubic bone

Skeletal Hands:
osteosclerosis in short tubular bones of the hands

Laboratory Abnormalities:
elevated alkaline phosphatase (in one patient)
elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)
elevated urinary pyridinoline and deoxypyridinoline

Clinical features from OMIM®:

615198 (Updated 05-Apr-2021)

Drugs & Therapeutics for Osteosclerotic Metaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Osteosclerotic Metaphyseal Dysplasia

Genetic Tests for Osteosclerotic Metaphyseal Dysplasia

Anatomical Context for Osteosclerotic Metaphyseal Dysplasia

MalaCards organs/tissues related to Osteosclerotic Metaphyseal Dysplasia:

40
Bone

Publications for Osteosclerotic Metaphyseal Dysplasia

Articles related to Osteosclerotic Metaphyseal Dysplasia:

# Title Authors PMID Year
1
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity. 57 61
27055475 2016
2
An extremely rare case: osteosclerotic metaphyseal dysplasia. 57 61
23610867 2013
3
Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. 61 57
12497229 2003
4
Osteosclerotic metaphyseal dysplasia. 57 61
8255649 1993
5
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation. 61
32119750 2020
6
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. 61
31571209 2020
7
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. 61
27829680 2017
8
Polysorbate-80-coated, polymeric curcumin nanoparticles for in vivo anti-depressant activity across BBB and envisaged biomolecular mechanism of action through a proposed pharmacophore model. 61
27682805 2016
9
Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review. 61
26084987 2015

Variations for Osteosclerotic Metaphyseal Dysplasia

ClinVar genetic disease variations for Osteosclerotic Metaphyseal Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRRK1 NM_024652.6(LRRK1):c.2785G>T (p.Glu929Ter) SNV Pathogenic 522616 rs766875506 GRCh37: 15:101569259-101569259
GRCh38: 15:101029054-101029054

Expression for Osteosclerotic Metaphyseal Dysplasia

Search GEO for disease gene expression data for Osteosclerotic Metaphyseal Dysplasia.

Pathways for Osteosclerotic Metaphyseal Dysplasia

GO Terms for Osteosclerotic Metaphyseal Dysplasia

Sources for Osteosclerotic Metaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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