MCID: LRW001
MIFTS: 42

Leri-Weill Dyschondrosteosis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Leri-Weill Dyschondrosteosis

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NIH Rare Diseases:41 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 based summary: Leri-Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to hypochondroplasia and langer mesomelic dysplasia, 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). The compound oligonucleotide have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotype limbs/digits/tail.

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.

OMIM:45 Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature,... (127300) more...

Wikipedia:63 L more...

Aliases & Classifications for Leri-Weill Dyschondrosteosis

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Leri-Weill Dyschondrosteosis, Aliases & Descriptions:

Name: Leri-Weill Dyschondrosteosis 45 10 21 43
Léri-Weill Dyschondrosteosis 41 20 21 47 22
Léri-Weill Syndrome 41 47
Dyschondrosteosis 41 21
 
Lwd 41 21
Dco 41 21
Leri Weill Dyschondrosteosis 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
léri-weill dyschondrosteosis:
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 127300
Orphanet47 240
MESH via Orphanet34 C537119
ICD10 via Orphanet26 Q77.8
UMLS via Orphanet61 C0265309

Related Diseases for Leri-Weill Dyschondrosteosis

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Diseases related to Leri-Weill Dyschondrosteosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia30.7FGFR3, SHOX
2langer mesomelic dysplasia10.8
3turner syndrome10.7
4achondroplasia10.5
5hodgkin lymphoma10.5
6neurofibromatosis, type 110.5
7neurofibromatosis10.5
8dyschondrosteosis nephritis10.4
9shox-related haploinsufficiency disorders10.1
10madelung deformity10.0
11skeletal dysplasia multi-gene panels10.0SHOX, FGFR3
12dwarfism9.9SHOX, FGFR3
13tongue squamous cell carcinoma9.9LBX1, FGFR3
14burkitt lymphoma9.7FGFR3, LBX1

Graphical network of diseases related to Leri-Weill Dyschondrosteosis:



Diseases related to leri-weill dyschondrosteosis

Symptoms for Leri-Weill Dyschondrosteosis

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Symptoms by clinical synopsis from OMIM:

127300

Clinical features from OMIM:

127300

Symptoms:

 47 (show all 31)
  • broad nose/nasal bridge
  • depressed nasal bridge
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • short limbs/micromelia/brachymelia
  • mesomelic micromelia
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • wrist/carpal anomalies
  • madelung's deformity
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • clinodactyly of fifth finger
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • patella absent/abnormal (excluding luxation)
  • genu varum
  • absent/small fingernails/anonychia of hands
  • absent/small toenails/anonychia of feet
  • exostoses
  • metaphyseal anomaly
  • epiphyseal anomaly
  • cone epiphyses/epiphysis
  • enlarged diaphysis/diaphyses
  • restricted joint mobility/joint stiffness/ankylosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • brachycephaly/flat occiput
  • genu valgum
  • elbow dislocation

HPO human phenotypes related to Leri-Weill Dyschondrosteosis:

(show all 48)
id Description Frequency HPO Source Accession
1 abnormality of the metaphyses hallmark (90%) HP:0000944
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 abnormality of the metacarpal bones hallmark (90%) HP:0001163
4 limitation of joint mobility hallmark (90%) HP:0001376
5 anonychia hallmark (90%) HP:0001798
6 abnormality of the femur hallmark (90%) HP:0002823
7 genu varum hallmark (90%) HP:0002970
8 micromelia hallmark (90%) HP:0002983
9 abnormality of the tibia hallmark (90%) HP:0002992
10 abnormality of the ulna hallmark (90%) HP:0002997
11 abnormality of the humerus hallmark (90%) HP:0003063
12 madelung deformity hallmark (90%) HP:0003067
13 abnormality of the hip bone hallmark (90%) HP:0003272
14 clinodactyly of the 5th finger hallmark (90%) HP:0004209
15 short stature hallmark (90%) HP:0004322
16 depressed nasal bridge hallmark (90%) HP:0005280
17 patellar aplasia hallmark (90%) HP:0006443
18 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
19 cone-shaped epiphysis hallmark (90%) HP:0010579
20 aplastic/hypoplastic toenail hallmark (90%) HP:0010624
21 exostoses hallmark (90%) HP:0100777
22 abnormality of calvarial morphology typical (50%) HP:0002648
23 genu valgum typical (50%) HP:0002857
24 elbow dislocation typical (50%) HP:0003042
25 autosomal dominant inheritance HP:0000006
26 high palate HP:0000218
27 abnormality of the carpal bones HP:0001191
28 short toe HP:0001831
29 abnormality of the metatarsal bones HP:0001832
30 scoliosis HP:0002650
31 coxa valga HP:0002673
32 multiple exostoses HP:0002762
33 tibial bowing HP:0002982
34 hypoplasia of the radius HP:0002984
35 radial bowing HP:0002986
36 limited elbow movement HP:0002996
37 hypoplasia of the ulna HP:0003022
38 mesomelia HP:0003027
39 fibular hypoplasia HP:0003038
40 abnormality of the humerus HP:0003063
41 madelung deformity HP:0003067
42 increased carrying angle HP:0003102
43 muscle hypertrophy HP:0003712
44 short tibia HP:0005736
45 limited wrist movement HP:0006248
46 dorsal subluxation of ulna HP:0006459
47 disproportionate short-limb short stature HP:0008873
48 short 4th metacarpal HP:0010044

Drugs & Therapeutics for Leri-Weill Dyschondrosteosis

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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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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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MalaCards organs/tissues related to Leri-Weill Dyschondrosteosis:

31
Bone

Animal Models for Leri-Weill Dyschondrosteosis or affiliated genes

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MGI Mouse Phenotypes related to Leri-Weill Dyschondrosteosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1FGFR3, LBX1

Publications for Leri-Weill Dyschondrosteosis

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

62
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:

6
id Gene Variation 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
6SHOXSHOX, 1-BP DEL, 1272GdeletionPathogenic
7SHOXNM_000451.3(SHOX): c.517C> T (p.Arg173Cys)single nucleotide variantPathogenicrs137852556GRCh37Chr X, 601586: 601586
8SHOXNM_000451.3(SHOX): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs137852557GRCh38Chr X, 640836: 640836
9SHOXNM_000451.3(SHOX): c.304G> T (p.Glu102Ter)single nucleotide variantPathogenicrs137852558GRCh37Chr X, 595379: 595379
10SHOXNM_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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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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Sources:
43Novoseek
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Compounds related to Leri-Weill Dyschondrosteosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1oligonucleotide439.1FGFR3, LBX1

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:00015019.0FGFR3, SHOX

Molecular functions related to Leri-Weill Dyschondrosteosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region sequence-specific DNA bindingGO:00009769.3SHOX, LBX1

Products for genes affiliated with Leri-Weill Dyschondrosteosis

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Sources for Leri-Weill Dyschondrosteosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet