DCO
MCID: LRW002
MIFTS: 27

Leri Weill Dyschondrosteosis (DCO) malady

Summaries for Leri Weill Dyschondrosteosis

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Leri weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called madelung deformity. short stature is present from birth due to shortening of the bones in the forearms and lower legs. madelung deformity typically develops during mid-to-late childhood and may progress during puberty. people with this condition often experience pain in their wrists or arms. the severity of leri weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. other features of leri weill dyschondrosteosis can include increased muscle size, elbow abnormalities, scoliosis, high-arched palate, and exostoses. intelligence is not affected by this condition. in around 70 percent of cases, leri weill dyschondrosteosis is caused by mutations in or near one copy of the shox gene in each cell. the cause of the disorder remains unknown in the remaining 30 percent of cases. last updated: 2/23/2010

MalaCards: Leri Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to short stature and achondroplasia. An important gene associated with Leri Weill Dyschondrosteosis is SHOX (short stature homeobox). Affiliated tissues include skeletal muscle.

Aliases & Classifications for Leri Weill Dyschondrosteosis

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR
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Aliases & Descriptions:

leri weill dyschondrosteosis 43
léri-weill dyschondrosteosis 43 20 22
dyschondrosteosis 43
dco 43
lwd 43


Related Diseases for Leri Weill Dyschondrosteosis

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17GeneCards, 18GeneDecks
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Diseases related to Leri Weill Dyschondrosteosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1short stature31.2SHOX, LBX1, FGFR3
2achondroplasia30.6FGFR3
3hypochondroplasia30.6SHOX, FGFR3
4l�ri-weill dyschondrosteosis11.0
5langer mesomelic dysplasia10.7
6turner syndrome10.7
7neurofibromatosis10.4
8short syndrome10.4
9dyschondrosteosis nephritis10.3
10shox-related haploinsufficiency disorders10.0
11n syndrome10.0
12brachydactyly10.0FGFR3
13skeletal dysplasias10.0SHOX, FGFR3
14hypertrophy of breast10.0SHOX, FGFR3
15dwarfism10.0FGFR3, SHOX

Graphical network of diseases related to Leri Weill Dyschondrosteosis:



Diseases related to leri weill dyschondrosteosis

Clinical Features for Leri Weill Dyschondrosteosis

Drugs & Therapeutics for Leri Weill Dyschondrosteosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Leri Weill Dyschondrosteosis

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20GeneTests, 22GTR
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Genetic tests related to Leri Weill Dyschondrosteosis:

id Genetic test Affiliating Genes
1 Leri-weill Dyschondrosteosis20 SHOX
2 Leri Weill Dyschondrosteosis22

Anatomical Context for Leri Weill Dyschondrosteosis

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33MalaCards
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MalaCards organs/tissues related to Leri Weill Dyschondrosteosis:

33
Skeletal muscle

Animal Models for Leri Weill Dyschondrosteosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Leri Weill Dyschondrosteosis

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51PubMed
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Articles related to Leri Weill Dyschondrosteosis:

(show all 30)
idTitleAuthorsYear
1
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). (22510850)
2012
2
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). (21147883)
2011
3
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. (21068148)
2011
4
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. (20683993)
2010
5
Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome. (19400538)
2009
6
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (17201812)
2007
7
Neuraxial anesthesia in a parturient with Leri-Weill dyschondrosteosis. (17451934)
2007
8
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. (16826534)
2006
9
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. (16007631)
2005
10
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
11
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. (15931687)
2005
12
Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis. (15902898)
2005
13
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (16175500)
2005
14
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. (15356038)
2004
15
Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome. (15197587)
2004
16
Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. (12694264)
2003
17
A rare cause of short stature: Leri Weill dyschondrosteosis. (12872816)
2003
18
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)
2003
19
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. (12070265)
2002
20
Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. (11677662)
2001
21
Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). (11891678)
2001
22
A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. (11503163)
2001
23
Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. (11509862)
2001
24
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. (10905666)
2000
25
Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome). (10770125)
1999
26
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome. (10626546)
1999
27
X/Y translocation in a family with Leri-Weill dyschondrosteosis. (10543407)
1999
28
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (10507731)
1999
29
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. (9590293)
1998
30
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). (9590292)
1998

Genetic Variations for Leri Weill Dyschondrosteosis

Expression for genes affiliated with Leri Weill Dyschondrosteosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leri Weill Dyschondrosteosis

Search GEO for disease gene expression data for Leri Weill Dyschondrosteosis.

Pathways for genes affiliated with Leri Weill Dyschondrosteosis

Compounds for genes affiliated with Leri Weill Dyschondrosteosis

GO Terms for genes affiliated with Leri Weill Dyschondrosteosis

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16Gene Ontology
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Biological processes related to Leri Weill Dyschondrosteosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:0015019.0FGFR3, SHOX

Molecular functions related to Leri Weill Dyschondrosteosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region sequence-specific DNA bindingGO:0009769.3SHOX, LBX1

Products for genes affiliated with Leri Weill Dyschondrosteosis

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Sources for Leri Weill Dyschondrosteosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet