Osteosclerotic Metaphyseal Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 615198

Orphanet ⁵⁸ ORPHA500548

MedGen ⁴¹ C3554665

SNOMED-CT via HPO ⁶⁸ 128613002 224958001 228156007 more

UMLS ⁷⁰ C3554665

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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

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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
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:

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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)

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Drugs & Therapeutics for Osteosclerotic Metaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Osteosclerotic Metaphyseal Dysplasia

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Genetic Tests for Osteosclerotic Metaphyseal Dysplasia

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Anatomical Context for Osteosclerotic Metaphyseal Dysplasia

MalaCards organs/tissues related to Osteosclerotic Metaphyseal Dysplasia:

⁴⁰

Bone

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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	Iida A...Ikegawa S	27055475	2016
2	An extremely rare case: osteosclerotic metaphyseal dysplasia. ⁵⁷ ⁶¹	Kasapkara CS...Tumer L	23610867	2013
3	Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. ⁶¹ ⁵⁷	Mennel EA...John SD	12497229	2003
4	Osteosclerotic metaphyseal dysplasia. ⁵⁷ ⁶¹	Nishimura G...Kozlowski K	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	Howaldt A...Kornak U	32119750	2020
6	A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. ⁶¹	Miryounesi M...Rokni-Zadeh H	31571209	2020
7	Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. ⁶¹	Guo L...Ikegawa S	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	Yusuf M...Ahmed B	27682805	2016
9	Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review. ⁶¹	Zheng H...He X	26084987	2015

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Genes for Osteosclerotic Metaphyseal Dysplasia

Genes related to Osteosclerotic Metaphyseal Dysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LRRK1	Leucine Rich Repeat Kinase 1	Protein Coding	766.72	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications Variants (show sections)	27829680

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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

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Expression for Osteosclerotic Metaphyseal Dysplasia

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

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Pathways for Osteosclerotic Metaphyseal Dysplasia

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GO Terms for Osteosclerotic Metaphyseal Dysplasia

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Sources for Osteosclerotic Metaphyseal Dysplasia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

⁹ Cosmic

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Osteosclerotic Metaphyseal Dysplasia (OSMD)

Aliases & Classifications for Osteosclerotic Metaphyseal Dysplasia

MalaCards integrated aliases for Osteosclerotic Metaphyseal Dysplasia:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Osteosclerotic Metaphyseal Dysplasia

Related Diseases for Osteosclerotic Metaphyseal Dysplasia

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

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

Symptoms & Phenotypes for Osteosclerotic Metaphyseal Dysplasia

Human phenotypes related to Osteosclerotic Metaphyseal Dysplasia:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Osteosclerotic Metaphyseal Dysplasia

Genetic Tests for Osteosclerotic Metaphyseal Dysplasia

Anatomical Context for Osteosclerotic Metaphyseal Dysplasia

MalaCards organs/tissues related to Osteosclerotic Metaphyseal Dysplasia:

Publications for Osteosclerotic Metaphyseal Dysplasia

Articles related to Osteosclerotic Metaphyseal Dysplasia:

Genes for Osteosclerotic Metaphyseal Dysplasia

Genes related to Osteosclerotic Metaphyseal Dysplasia (1 elite genes):

Variations for Osteosclerotic Metaphyseal Dysplasia

ClinVar genetic disease variations for Osteosclerotic Metaphyseal Dysplasia:

Expression for Osteosclerotic Metaphyseal Dysplasia

Pathways for Osteosclerotic Metaphyseal Dysplasia

GO Terms for Osteosclerotic Metaphyseal Dysplasia

Sources for Osteosclerotic Metaphyseal Dysplasia