MCID: LRW001
MIFTS: 41

Leri-Weill Dyschondrosteosis

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

Aliases & Classifications for Leri-Weill Dyschondrosteosis

MalaCards integrated aliases for Leri-Weill Dyschondrosteosis:

Name: Leri-Weill Dyschondrosteosis 53 12 24 71 13 51 14 49 24 55
Lwd 53 49 24 71
Dyschondrosteosis 53 49 24
Dco 53 49 24
Leri Weill Dyschondrosteosis 49 28
Dyschondrosteosis; Dco 53
Léri-Weill Syndrome 55
Madelung Deformity 55
Leri-Weil Syndrome 41

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
female preponderance
madelung deformity more frequent and more severe in females


HPO:

31
leri-weill dyschondrosteosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 127300
Disease Ontology 12 DOID:0060847
ICD10 32 Q77.8
MeSH 41 C537119
MESH via Orphanet 42 C537119
UMLS via Orphanet 70 C0265309 C0152441
ICD10 via Orphanet 33 Q77.8 Q74.0
UMLS 69 C0265309

Summaries for Leri-Weill Dyschondrosteosis

NIH Rare Diseases : 49 Leri Weill dyschondrosteosis (LWD) 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 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, which is similar to the autosomal dominant inheritance.  LWD is part of a group of diseases caused by deficiency of the SHOX gene, which includes a form or SHOX related short stature without additional problems.  Last updated: 9/8/2017

MalaCards based summary : Leri-Weill Dyschondrosteosis, also known as lwd, is related to langer mesomelic dysplasia and turner syndrome, and has symptoms including joint stiffness, genu valgum and scoliosis. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (Short Stature Homeobox). Affiliated tissues include bone and skeletal muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965). See also Langer mesomelic dysplasia (LMD; 249700), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes. (127300)

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature. It has material basis in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.

Wikipedia : 72 Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in... more...

Related Diseases for Leri-Weill Dyschondrosteosis

Graphical network of the top 20 diseases related to Leri-Weill Dyschondrosteosis:



Diseases related to Leri-Weill Dyschondrosteosis

Symptoms & Phenotypes for Leri-Weill Dyschondrosteosis

Symptoms via clinical synopsis from OMIM:

53
Skeletal Spine:
scoliosis

Head And Neck Mouth:
high-arched palate

Skeletal Hands:
madelung wrist deformity (74% of lwd patients)
limited wrist mobility

Skeletal Limbs:
mesomelia
dorsal subluxation of ulna
increased carrying angle
limited elbow mobility
bowing of the radius
more
Growth Height:
short stature, disproportionate
adult height 135cm to normal


Clinical features from OMIM:

127300

Human phenotypes related to Leri-Weill Dyschondrosteosis:

55 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 genu valgum 55 31 frequent (33%) Frequent (79-30%) HP:0002857
3 scoliosis 55 31 Frequent (79-30%) HP:0002650
4 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 exostoses 55 31 hallmark (90%) Very frequent (99-80%) HP:0100777
7 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
8 micromelia 55 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002983
9 cone-shaped epiphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0010579
10 abnormality of the hip bone 55 31 hallmark (90%) Very frequent (99-80%) HP:0003272
11 diaphyseal thickening 55 31 hallmark (90%) Very frequent (99-80%) HP:0005019
12 madelung deformity 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0003067
13 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
14 abnormality of femur morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0002823
15 limited elbow movement 55 31 Very frequent (99-80%) HP:0002996
16 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
17 elbow dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0003042
18 genu varum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002970
19 disproportionate short-limb short stature 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0008873
20 hypoplasia of the ulna 55 31 hallmark (90%) Very frequent (99-80%) HP:0003022
21 hypoplastic fingernail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001804
22 abnormality of calvarial morphology 55 31 frequent (33%) Frequent (79-30%) HP:0002648
23 hypoplasia of the radius 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002984
24 aplastic/hypoplastic toenail 55 31 hallmark (90%) Very frequent (99-80%) HP:0010624
25 mesomelia 55 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0003027
26 tibial bowing 55 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0002982
27 patellar aplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0006443
28 abnormality of the carpal bones 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001191
29 radial bowing 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002986
30 ulnar bowing 55 31 hallmark (90%) Very frequent (99-80%) HP:0003031
31 abnormality of the humerus 55 31 hallmark (90%) Very frequent (99-80%) HP:0003063
32 short tibia 55 31 hallmark (90%) Very frequent (99-80%) HP:0005736
33 limited wrist movement 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006248
34 dorsal subluxation of ulna 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006459
35 multiple exostoses 55 31 Frequent (79-30%) HP:0002762
36 arthralgia 55 Very frequent (99-80%)
37 bone pain 55 Very frequent (99-80%)
38 joint dislocation 55 Very frequent (99-80%)
39 osteoarthritis 55 Frequent (79-30%)
40 abnormality of epiphysis morphology 55 Very frequent (99-80%),Very frequent (99-80%)
41 high palate 31 HP:0000218
42 abnormality of the ulna 55 Very frequent (99-80%)
43 nephropathy 55 Occasional (29-5%)
44 coxa valga 31 HP:0002673
45 short 4th metacarpal 31 HP:0010044
46 short toe 31 HP:0001831
47 abnormality of pelvic girdle bone morphology 55 Very frequent (99-80%)
48 abnormality of the elbow 55 Very frequent (99-80%)
49 abnormality of the metatarsal bones 31 HP:0001832
50 skeletal muscle hypertrophy 31 HP:0003712

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

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.4 FGFR3 SHOX2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.4 FGFR3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.4 SHOX2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.4 SHOX2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.4 SHOX2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.4 SHOX2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.4 SHOX2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.4 SHOX2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.4 FGFR3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.4 FGFR3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 FGFR3

Drugs & Therapeutics for Leri-Weill Dyschondrosteosis

Search Clinical Trials , NIH Clinical Center for Leri-Weill Dyschondrosteosis

Cochrane evidence based reviews: leri-weil syndrome

Genetic Tests for Leri-Weill Dyschondrosteosis

Genetic tests related to Leri-Weill Dyschondrosteosis:

# Genetic test Affiliating Genes
1 Leri Weill Dyschondrosteosis 28

Anatomical Context for Leri-Weill Dyschondrosteosis

MalaCards organs/tissues related to Leri-Weill Dyschondrosteosis:

38
Bone, Skeletal Muscle

Publications for Leri-Weill Dyschondrosteosis

Articles related to Leri-Weill Dyschondrosteosis:

(show all 31)
# Title Authors Year
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
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). ( 21147883 )
2011
6
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. ( 21068148 )
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
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. ( 17091221 )
2007
10
Neuraxial anesthesia in a parturient with Leri-Weill dyschondrosteosis. ( 17451934 )
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
Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis. ( 15902898 )
2005
15
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. ( 15931687 )
2005
16
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. ( 16175500 )
2005
17
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. ( 16227037 )
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
A rare cause of short stature: Leri Weill dyschondrosteosis. ( 12872816 )
2003
21
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. ( 12476453 )
2003
22
Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. ( 12694264 )
2003
23
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. ( 12070265 )
2002
24
Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. ( 11509862 )
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
Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. ( 11677662 )
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
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. ( 10507731 )
1999
30
X/Y translocation in a family with Leri-Weill dyschondrosteosis. ( 10543407 )
1999
31
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. ( 9590293 )
1998

Variations for Leri-Weill Dyschondrosteosis

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

71
# Symbol AA change Variation ID SNP ID
1 SHOX p.Arg173Cys VAR_012346 rs137852556
2 SHOX p.Leu132Val VAR_019414 rs137852554
3 SHOX p.Arg153Leu VAR_019415 rs137852555

ClinVar genetic disease variations for Leri-Weill Dyschondrosteosis:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOX NM_000451.3(SHOX): c.597C> G (p.Tyr199Ter) single nucleotide variant Pathogenic rs137852553 GRCh37 Chromosome X, 601786: 601786
2 SHOX SHOX, DEL deletion Pathogenic
3 SHOX NM_000451.3(SHOX): c.394C> G (p.Leu132Val) single nucleotide variant Pathogenic rs137852554 GRCh38 Chromosome X, 634734: 634734
4 SHOX NM_000451.3(SHOX): c.458G> T (p.Arg153Leu) single nucleotide variant Pathogenic rs137852555 GRCh37 Chromosome X, 595533: 595533
5 SHOX SHOX, 1-BP DEL, 1272G deletion Pathogenic
6 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh38 Chromosome X, 640851: 640851
7 SHOX NM_000451.3(SHOX): c.502C> T (p.Arg168Trp) single nucleotide variant Pathogenic rs137852557 GRCh38 Chromosome X, 640836: 640836
8 SHOX NM_000451.3(SHOX): c.304G> T (p.Glu102Ter) single nucleotide variant Pathogenic rs137852558 GRCh37 Chromosome X, 595379: 595379
9 SHOX NM_000451.3(SHOX): c.877T> C (p.Ter293Arg) single nucleotide variant Pathogenic rs137852559 GRCh38 Chromosome X, 644634: 644634
10 SHOX SHOX, 1.1-MB DEL deletion Pathogenic
11 SHOX NM_000451.3(SHOX): c.508G> C (p.Ala170Pro) single nucleotide variant Pathogenic rs397514461 GRCh37 Chromosome X, 601577: 601577
12 SHOX NM_000451.3(SHOX): c.509C> A (p.Ala170Asp) single nucleotide variant Pathogenic rs397514462 GRCh37 Chromosome X, 601578: 601578
13 SHOX SHOX, 47.5-KB DEL, DOWNSTREAM ENHANCER deletion Pathogenic
14 SHOX NM_000451.3(SHOX): c.440G> A (p.Arg147His) single nucleotide variant Pathogenic rs886043634 GRCh37 Chromosome X, 595515: 595515

Expression for Leri-Weill Dyschondrosteosis

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

Pathways for Leri-Weill Dyschondrosteosis

GO Terms for Leri-Weill Dyschondrosteosis

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

# Name GO ID Score Top Affiliating Genes
1 chondrocyte differentiation GO:0002062 8.96 FGFR3 SHOX2
2 skeletal system development GO:0001501 8.8 FGFR3 SHOX SHOX2

Sources for Leri-Weill Dyschondrosteosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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33 ICD10 via Orphanet
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35 IUPHAR
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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