DCO
MCID: LRW002
MIFTS: 42

Leri Weill Dyschondrosteosis (DCO) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Leri Weill Dyschondrosteosis

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 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 langer mesomelic dysplasia, and has symptoms including short limbs/micromelia/brachymelia, short limbs/micromelia/brachymelia and elbow dislocation. An important gene associated with Leri Weill Dyschondrosteosis is SHOX (short stature homeobox). Affiliated tissues include bone.

Genetics Home Reference:21 Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. This abnormality usually appears in childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis can include increased muscle mass (muscle hypertrophy); bowing of a bone in the lower leg called the tibia; a greater-than-normal angling of the elbow away from the body (increased carrying angle); and a high arched palate.

Wikipedia:65 L more...

Description from OMIM:47 127300

Aliases & Classifications for Leri Weill Dyschondrosteosis

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43NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 49Orphanet, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
léri-weill dyschondrosteosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal
madelung deformity:
Inheritance: Multigenic/multifactorial; Age of onset: Childhood


Aliases & Descriptions:

leri weill dyschondrosteosis 43
léri-weill dyschondrosteosis 43 20 22 21 49
leri-weill dyschondrosteosis 21 47 45
dyschondrosteosis 43 21
lwd 43 21
dco 43 21
léri-weill syndrome 49
madelung deformity 49


External Ids:

OMIM47 127300
MESH via Orphanet36 C537119
ICD10 via Orphanet26 Q77.8, Q74.0
SNOMED-CT via Orphanet59 17818006, 4530000
UMLS via Orphanet63 C0265309, C0152441

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 13)
idRelated DiseaseScoreTop Affiliating Genes
1short stature10.9
2langer mesomelic dysplasia10.8
3turner syndrome10.7
4neurofibromatosis10.5
5achondroplasia10.5
6hypochondroplasia10.5
7hodgkin's lymphoma10.5
8dyschondrosteosis nephritis10.3
9madelung deformity, bilateral10.3
10madelung deformity, unilateral10.3
11exostoses, multiple, type 110.1
12trigger thumb10.1
13shox-related haploinsufficiency disorders10.0

Graphical network of diseases related to Leri Weill Dyschondrosteosis:



Diseases related to leri weill dyschondrosteosis

Symptoms for Leri Weill Dyschondrosteosis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

127300

Clinical features from OMIM:

127300

Symptoms:

49 (show all 41)
  • short limbs/micromelia/brachymelia
  • elbow dislocation
  • absent/small fingernails/anonychia of hands
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • clinodactyly of fifth finger
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • enlarged diaphysis/diaphyses
  • cone epiphyses/epiphysis
  • short hand/brachydactyly
  • genu varum
  • anomalies of spine, vertebrae and pelvis
  • humeroulnar joint anomaly
  • madelung's deformity
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • absent/small toenails/anonychia of feet
  • patella absent/abnormal (excluding luxation)
  • global upper and lower limbs anomalies
  • bone pain
  • elbow anomalies(excluding luxation)
  • mesomelic micromelia
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • broad nose/nasal bridge
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • depressed nasal bridge
  • autosomal dominant inheritance
  • scoliosis
  • joint/articular deformation
  • osteoarthritis
  • epiphyseal anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • wrist/carpal anomalies
  • metaphyseal anomaly
  • exostoses
  • metacarpal anomalies/archibald's sign
  • brachycephaly/flat occiput
  • articular/joint pain/arthralgia
  • renal disease/nephropathy
  • short stature/dwarfism/nanism
  • genu valgum

Drugs & Therapeutics for Leri Weill Dyschondrosteosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Leri Weill Dyschondrosteosis

Search NIH Clinical Center for Leri Weill Dyschondrosteosis

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
Bone

Animal Models for Leri Weill Dyschondrosteosis or affiliated genes

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Publications for Leri Weill Dyschondrosteosis

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52PubMed
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Articles related to Leri Weill Dyschondrosteosis:

(show all 28)
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
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. (17091221)
2007
9
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. (16826534)
2006
10
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
11
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
12
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. (15931687)
2005
13
Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis. (15902898)
2005
14
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (16175500)
2005
15
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. (15356038)
2004
16
Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome. (15197587)
2004
17
Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. (12694264)
2003
18
A rare cause of short stature: Leri Weill dyschondrosteosis. (12872816)
2003
19
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)
2003
20
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. (12070265)
2002
21
Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. (11677662)
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
X/Y translocation in a family with Leri-Weill dyschondrosteosis. (10543407)
1999
27
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (10507731)
1999
28
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. (9590293)
1998

Variations for Leri Weill Dyschondrosteosis

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Leri Weill Dyschondrosteosis:

64
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg173CysVAR_012346
2SHOXp.Leu132ValVAR_019414
3SHOXp.Arg153LeuVAR_019415

Clinvar genetic disease variations for Leri Weill Dyschondrosteosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.508G> C (p.Ala170Pro)single nucleotide variantPathogenicrs397514461GRCh37Chr X, 601577: 601577
2SHOXNM_000451.3(SHOX): c.509C> A (p.Ala170Asp)single nucleotide variantPathogenicrs397514462GRCh37Chr X, 601578: 601578
3SHOXNM_000451.3(SHOX): c.597C> G (p.Tyr199Ter)single nucleotide variantPathogenicrs137852553GRCh37Chr X, 601786: 601786
4SHOXNM_000451.3(SHOX): c.394C> G (p.Leu132Val)single nucleotide variantPathogenicrs137852554GRCh37Chr X, 595469: 595469
5SHOXNM_000451.3(SHOX): c.458G> T (p.Arg153Leu)single nucleotide variantPathogenicrs137852555GRCh37Chr X, 595533: 595533
6SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)single nucleotide variantPathogenicrs137852556GRCh37Chr X, 601586: 601586
7SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs137852557GRCh38Chr X, 640836: 640836
8SHOXNM_000451.3(SHOX): c.304G> T (p.Glu102Ter)single nucleotide variantPathogenicrs137852558GRCh37Chr X, 595379: 595379
9SHOXNM_000451.3(SHOX): c.877T> C (p.Ter293Arg)single nucleotide variantPathogenicrs137852559GRCh38Chr X, 644634: 644634

Expression for genes affiliated with Leri Weill Dyschondrosteosis

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2BioGPS, 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

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Compounds for genes affiliated with Leri Weill Dyschondrosteosis

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GO Terms for genes affiliated with Leri Weill Dyschondrosteosis

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Products for genes affiliated with Leri Weill Dyschondrosteosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leri Weill Dyschondrosteosis

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet