MCID: LRW001
MIFTS: 40

Leri-Weill Dyschondrosteosis malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Leri-Weill Dyschondrosteosis

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Leri-Weill Dyschondrosteosis:

Name: Leri-Weill Dyschondrosteosis 52 24 25 70 12 50
Léri-Weill Dyschondrosteosis 48 25 54 27
Dyschondrosteosis 48 24 25
Lwd 48 25 70
Dco 48 25
 
Leri Weill Dyschondrosteosis 48
Léri-Weill Syndrome 54
Leri-Weill Syndrome 24
Madelung Deformity 54

Characteristics:

Orphanet epidemiological data:

54
léri-weill dyschondrosteosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy
madelung deformity:
Inheritance: Multigenic/multifactorial; Age of onset: Childhood

HPO:

64
leri-weill dyschondrosteosis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 127300
ICD10 via Orphanet31 Q77.8, Q74.0
MESH via Orphanet40 C537119
UMLS via Orphanet69 C0265309, C0152441

Summaries for Leri-Weill Dyschondrosteosis

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NIH Rare Diseases:48 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 long bones in the 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, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance.  Last updated: 3/30/2016

MalaCards based summary: Leri-Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to hypochondroplasia and madelung deformity, and has symptoms including abnormality of the metaphyses, brachydactyly syndrome and abnormality of the metacarpal bones. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (Short Stature Homeobox). Affiliated tissues include bone and skeletal muscle, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference:25 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.

OMIM:52 Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature,... (127300) more...

UniProtKB/Swiss-Prot:70 Leri-Weill dyschondrosteosis: Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.

Wikipedia:71 Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results... more...

Related Diseases for Leri-Weill Dyschondrosteosis

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Graphical network of diseases related to Leri-Weill Dyschondrosteosis:



Diseases related to leri-weill dyschondrosteosis

Symptoms & Phenotypes for Leri-Weill Dyschondrosteosis

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Symptoms by clinical synopsis from OMIM:

127300

Clinical features from OMIM:

127300

Human phenotypes related to Leri-Weill Dyschondrosteosis:

 64 54 (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphyses64 54 hallmark (90%) Very frequent (99-80%) HP:0000944
2 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
3 abnormality of the metacarpal bones64 hallmark (90%) HP:0001163
4 limitation of joint mobility64 hallmark (90%) HP:0001376
5 anonychia64 hallmark (90%) HP:0001798
6 bone pain64 54 hallmark (90%) Very frequent (99-80%) HP:0002653
7 abnormality of the femur64 54 hallmark (90%) Very frequent (99-80%) HP:0002823
8 arthralgia64 54 hallmark (90%) Very frequent (99-80%) HP:0002829
9 genu varum64 54 hallmark (90%) Very frequent (99-80%) HP:0002970
10 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
11 abnormality of the tibia64 54 hallmark (90%) Very frequent (99-80%) HP:0002992
12 abnormality of the ulna64 54 hallmark (90%) Very frequent (99-80%) HP:0002997
13 abnormality of the humerus64 54 hallmark (90%) Very frequent (99-80%) HP:0003063
14 madelung deformity64 54 hallmark (90%) Very frequent (99-80%) HP:0003067
15 abnormality of the hip bone64 54 hallmark (90%) Very frequent (99-80%) HP:0003272
16 clinodactyly of the 5th finger64 54 hallmark (90%) Very frequent (99-80%) HP:0004209
17 short stature64 hallmark (90%) HP:0004322
18 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
19 patellar aplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0006443
20 aplasia/hypoplasia of the radius64 hallmark (90%) HP:0006501
21 cone-shaped epiphysis64 54 hallmark (90%) Very frequent (99-80%) HP:0010579
22 aplastic/hypoplastic toenail64 54 hallmark (90%) Very frequent (99-80%) HP:0010624
23 abnormality of the humeroulnar joint64 54 hallmark (90%) Very frequent (99-80%) HP:0100745
24 exostoses64 54 hallmark (90%) Very frequent (99-80%) HP:0100777
25 abnormality of calvarial morphology64 54 typical (50%) Frequent (79-30%) HP:0002648
26 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
27 osteoarthritis64 54 typical (50%) Frequent (79-30%) HP:0002758
28 genu valgum64 54 typical (50%) Frequent (79-30%) HP:0002857
29 elbow dislocation64 54 typical (50%) Frequent (79-30%) HP:0003042
30 nephropathy64 54 occasional (7.5%) Occasional (29-5%) HP:0000112
31 high palate64 HP:0000218
32 abnormality of the carpal bones64 54 Very frequent (99-80%) HP:0001191
33 short toe64 HP:0001831
34 abnormality of the metatarsal bones64 HP:0001832
35 coxa valga64 HP:0002673
36 multiple exostoses64 54 Frequent (79-30%) HP:0002762
37 tibial bowing64 54 Very frequent (99-80%) HP:0002982
38 hypoplasia of the radius64 54 Very frequent (99-80%) HP:0002984
39 radial bowing64 54 Very frequent (99-80%) HP:0002986
40 limited elbow movement64 54 Very frequent (99-80%) HP:0002996
41 hypoplasia of the ulna64 54 Very frequent (99-80%) HP:0003022
42 mesomelia64 54 Very frequent (99-80%) HP:0003027
43 fibular hypoplasia64 HP:0003038
44 increased carrying angle64 HP:0003102
45 skeletal muscle hypertrophy64 HP:0003712
46 short tibia64 54 Very frequent (99-80%) HP:0005736
47 limited wrist movement64 54 Very frequent (99-80%) HP:0006248
48 dorsal subluxation of ulna64 54 Very frequent (99-80%) HP:0006459
49 disproportionate short-limb short stature64 54 Very frequent (99-80%) HP:0008873
50 short 4th metacarpal64 HP:0010044
51 wide nasal bridge54 Very frequent (99-80%)
52 joint stiffness54 Very frequent (99-80%)
53 hypoplastic fingernail54 Very frequent (99-80%)
54 abnormality of pelvic girdle bone morphology54 Very frequent (99-80%)
55 abnormality of the radius54 Very frequent (99-80%)
56 ulnar bowing54 Very frequent (99-80%)
57 diaphyseal thickening54 Very frequent (99-80%)
58 abnormality of epiphysis morphology54 Very frequent (99-80%)
59 abnormality of the vertebral column54 Frequent (79-30%)
60 joint dislocation54 Very frequent (99-80%)
61 long ulna54 Very frequent (99-80%)
62 type c brachydactyly54 Occasional (29-5%)
63 abnormality of the elbow54 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Leri-Weill Dyschondrosteosis according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.3LBX1, SHOX

Drugs & Therapeutics for Leri-Weill Dyschondrosteosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Leri-Weill Dyschondrosteosis

Genetic Tests for Leri-Weill Dyschondrosteosis

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Genetic tests related to Leri-Weill Dyschondrosteosis:

id Genetic test Affiliating Genes
1 Leri Weill Dyschondrosteosis27
2 Leri-Weill Dyschondrosteosis24 SHOX

Anatomical Context for Leri-Weill Dyschondrosteosis

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MalaCards organs/tissues related to Leri-Weill Dyschondrosteosis:

36
Bone, Skeletal muscle

Publications for Leri-Weill Dyschondrosteosis

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Articles related to Leri-Weill Dyschondrosteosis:

(show all 31)
idTitleAuthorsYear
1
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. (26984564)
2016
2
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature. (26698168)
2016
3
A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene. (26512353)
2015
4
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD). (22510850)
2012
5
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. (21068148)
2011
6
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). (21147883)
2011
7
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. (20683993)
2010
8
Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome. (19400538)
2009
9
Neuraxial anesthesia in a parturient with Leri-Weill dyschondrosteosis. (17451934)
2007
10
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. (17091221)
2007
11
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (17201812)
2007
12
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. (16826534)
2006
13
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
14
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
15
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (16175500)
2005
16
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. (15931687)
2005
17
Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis. (15902898)
2005
18
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. (15356038)
2004
19
Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome. (15197587)
2004
20
Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. (12694264)
2003
21
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)
2003
22
A rare cause of short stature: Leri Weill dyschondrosteosis. (12872816)
2003
23
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. (12070265)
2002
24
Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. (11677662)
2001
25
A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. (11503163)
2001
26
Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. (11509862)
2001
27
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. (10905666)
2000
28
Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome). (10770125)
1999
29
X/Y translocation in a family with Leri-Weill dyschondrosteosis. (10543407)
1999
30
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (10507731)
1999
31
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. (9590293)
1998

Variations for Leri-Weill Dyschondrosteosis

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UniProtKB/Swiss-Prot genetic disease variations for Leri-Weill Dyschondrosteosis:

70
id Symbol AA change Variation ID SNP ID
1SHOXp.Arg173CysVAR_012346rs137852556
2SHOXp.Leu132ValVAR_019414rs137852554
3SHOXp.Arg153LeuVAR_019415rs137852555

Clinvar genetic disease variations for Leri-Weill Dyschondrosteosis:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1SHOXNM_000451.3(SHOX): c.440G> A (p.Arg147His)SNVPathogenicrs886043634GRCh37Chr X, 595515: 595515
2SHOXNM_000451.3(SHOX): c.508G> C (p.Ala170Pro)SNVPathogenicrs397514461GRCh37Chr X, 601577: 601577
3SHOXNM_000451.3(SHOX): c.509C> A (p.Ala170Asp)SNVPathogenicrs397514462GRCh37Chr X, 601578: 601578
4SHOXSHOX, 47.5-KB DEL, DOWNSTREAM ENHANCERdeletionPathogenicChr na, -1: -1
5SHOXNM_000451.3(SHOX): c.597C> G (p.Tyr199Ter)SNVPathogenicrs137852553GRCh37Chr X, 601786: 601786
6SHOXSHOX, DELdeletionPathogenicChr na, -1: -1
7SHOXNM_000451.3(SHOX): c.394C> G (p.Leu132Val)SNVPathogenicrs137852554GRCh37Chr X, 595469: 595469
8SHOXNM_000451.3(SHOX): c.458G> T (p.Arg153Leu)SNVPathogenicrs137852555GRCh37Chr X, 595533: 595533
9SHOXSHOX, 1-BP DEL, 1272GdeletionPathogenicChr na, -1: -1
10SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)SNVPathogenicrs137852556GRCh37Chr X, 601586: 601586
11SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)SNVPathogenicrs137852557GRCh37Chr X, 601571: 601571
12SHOXNM_000451.3(SHOX): c.304G> T (p.Glu102Ter)SNVPathogenicrs137852558GRCh38Chr X, 634644: 634644
13SHOXNM_000451.3(SHOX): c.877T> C (p.Ter293Arg)SNVPathogenicrs137852559GRCh38Chr X, 644634: 644634
14SHOXSHOX, 1.1-MB DELdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Leri-Weill Dyschondrosteosis

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

Pathways for genes affiliated with Leri-Weill Dyschondrosteosis

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GO Terms for genes affiliated with Leri-Weill Dyschondrosteosis

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Biological processes related to Leri-Weill Dyschondrosteosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:00015019.4FGFR3, SHOX

Sources for Leri-Weill Dyschondrosteosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet