MCID: OST168
MIFTS: 22

Osteosclerotic Metaphyseal Dysplasia

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 59 6 73
Osmd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
four patients reported (last curated april 2013)


HPO:

32
osteosclerotic metaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Osteosclerotic Metaphyseal Dysplasia, also known as osmd, is related to pyle disease and porphyria, acute hepatic. 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 seizures

Related Diseases for Osteosclerotic Metaphyseal Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 pyle disease 10.4
2 porphyria, acute hepatic 10.0
3 skeletal dysplasias 10.0
4 hypotonia 10.0

Symptoms & Phenotypes for Osteosclerotic Metaphyseal Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
developmental delay
hypotonia
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:
less than 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

Human phenotypes related to Osteosclerotic Metaphyseal Dysplasia:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 elevated alkaline phosphatase 32 occasional (7.5%) HP:0003155
6 metaphyseal dysplasia 32 HP:0100255
7 clavicular sclerosis 32 HP:0100923

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:

41
Bone

Publications for Osteosclerotic Metaphyseal Dysplasia

Articles related to Osteosclerotic Metaphyseal Dysplasia:

# Title Authors Year
1
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. ( 27829680 )
2017
2
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity. ( 27055475 )
2016
3
Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review. ( 26084987 )
2015
4
An extremely rare case: osteosclerotic metaphyseal dysplasia. ( 23610867 )
2013
5
Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. ( 12497229 )
2003
6
Osteosclerotic metaphyseal dysplasia. ( 8255649 )
1993

Variations for Osteosclerotic Metaphyseal Dysplasia

ClinVar genetic disease variations for Osteosclerotic Metaphyseal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRRK1 NM_024652.5(LRRK1): c.2785G> T (p.Glu929Ter) single nucleotide variant Pathogenic rs766875506 GRCh38 Chromosome 15, 101029054: 101029054
2 LRRK1 NM_024652.5(LRRK1): c.2785G> T (p.Glu929Ter) single nucleotide variant Pathogenic rs766875506 GRCh37 Chromosome 15, 101569259: 101569259

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 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
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