LWD
MCID: LRW001
MIFTS: 44

Leri-Weill Dyschondrosteosis (LWD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Leri-Weill Dyschondrosteosis

MalaCards integrated aliases for Leri-Weill Dyschondrosteosis:

Name: Leri-Weill Dyschondrosteosis 57 11 42 58 73 28 12 53 5 14
Lwd 57 19 42 73
Léri-Weill Dyschondrosteosis 19 42 75
Dyschondrosteosis 57 19 42
Dco 57 19 42
Dyschondrosteosis, Leri-Weill 38
Leri Weill Dyschondrosteosis 19
Leri-Weill Syndrome 58
Leri-Weil Syndrome 43

Characteristics:


Inheritance:

Autosomal dominant 58 , Pseudoautosomal dominant 57

Age Of Onset:

Adolescent,Antenatal,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
female preponderance
madelung deformity more frequent and more severe in females
shox is located in the pseudoautosomal region of the x and y chromosomes


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060847
OMIM® 57 127300
MeSH 43 C537119
NCIt 49 C126560
SNOMED-CT 68 17818006
MESH via Orphanet 44 C537119
ICD10 via Orphanet 32 Q77.8
UMLS via Orphanet 72 C0265309
Orphanet 58 ORPHA240
UMLS 71 C0265309

Summaries for Leri-Weill Dyschondrosteosis

GARD: 19 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 genetic changes 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.

MalaCards based summary: Leri-Weill Dyschondrosteosis, also known as lwd, is related to madelung deformity and shox-related short stature. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (Short Stature Homeobox), and among its related pathways/superpathways is FGFR3 signaling in chondrocyte proliferation and terminal differentiation. Affiliated tissues include bone, skeletal muscle and eye, and related phenotypes are depressed nasal bridge and wide nasal bridge

MedlinePlus Genetics: 42 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.Léri-Weill dyschondrosteosis occurs in both males and females, although its signs and symptoms tend to be more severe in females. Researchers believe that the more severe features may result from hormonal differences.

OMIM®: 57 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) (Updated 08-Dec-2022)

Disease Ontology: 11 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 and has material basis in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.

Wikipedia: 75 Léri-Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in... more...

Related Diseases for Leri-Weill Dyschondrosteosis

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 madelung deformity 32.5 SHOX LOC108251803 LOC108251802
2 shox-related short stature 32.4 SHOX2 SHOX LOC107652445
3 langer mesomelic dysplasia 31.9 SHOX LOC107652445 CNE9 CNE8 CNE7 CNE6
4 turner syndrome 31.3 SRY SHOX2 SHOX
5 short stature, idiopathic, x-linked 31.1 SHOX LOC107652445
6 osteochondrodysplasia 30.8 SHOX2 SHOX NPR2 FGFR3
7 hypochondroplasia 30.6 SHOX NPR2 FGFR3
8 isolated growth hormone deficiency, type ia 29.8 SHOX NPR2 FGFR3
9 dyschondrosteosis and nephritis 11.5
10 shox deficiency disorders 10.8
11 mesomelia 10.6
12 scoliosis 10.4
13 achondroplasia 10.3
14 aortic valve disease 1 10.3
15 burkitt lymphoma 10.3
16 neurofibromatosis, type i 10.3
17 lymphoma, hodgkin, classic 10.3
18 lymphoma, hodgkin, x-linked pseudoautosomal 10.3
19 neurofibromatosis-noonan syndrome 10.3
20 aortic valve disease 2 10.3
21 acid-labile subunit deficiency 10.3
22 aortic valve disease 3 10.3
23 lymphoma 10.3
24 chromosomal disease 10.3
25 hypogonadotropic hypogonadism 10.3
26 premature menopause 10.3
27 telangiectasis 10.3
28 craniosynostosis 10.3
29 retinal telangiectasia 10.3
30 neurofibromatosis 10.3
31 overgrowth syndrome 10.3
32 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
33 leukemia, acute lymphoblastic 10.2
34 leukemia, acute lymphoblastic 3 10.2
35 b-lymphoblastic leukemia/lymphoma 10.2
36 juvenile rheumatoid arthritis 10.2
37 arthritis 10.2
38 children's interstitial lung disease 10.2
39 mixed gonadal dysgenesis 10.1 SRY SHOX
40 acromesomelic dysplasia 1 10.1 SHOX NPR2 FGFR3
41 acromesomelic dysplasia 10.1 SHOX NPR2 FGFR3
42 thanatophoric dysplasia, type i 10.1 SHOX NPR2 FGFR3
43 asthma 10.1
44 noma 10.1
45 camptodactyly-tall stature-scoliosis-hearing loss syndrome 10.1 NPR2 FGFR3
46 bone development disease 10.1 SHOX NPR2 FGFR3
47 spondyloepiphyseal dysplasia, kimberley type 10.0 SHOX NPR2
48 ichthyosis 10.0
49 cataract 7 9.9
50 pneumothorax, primary spontaneous 9.9

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



Diseases related to Leri-Weill Dyschondrosteosis

Symptoms & Phenotypes for Leri-Weill Dyschondrosteosis

Human phenotypes related to Leri-Weill Dyschondrosteosis:

58 30 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005280
2 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
3 joint stiffness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001387
4 diaphyseal thickening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005019
5 madelung deformity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003067
6 abnormality of femur morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002823
7 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
8 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
9 genu varum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002970
10 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
11 hypoplastic fingernail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001804
12 hypoplasia of the ulna 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003022
13 cone-shaped epiphysis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010579
14 exostoses 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100777
15 disproportionate short-limb short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008873
16 hypoplasia of the radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002984
17 aplastic/hypoplastic toenail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010624
18 abnormality of the humerus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003063
19 patellar aplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006443
20 tibial bowing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002982
21 radial bowing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002986
22 mesomelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003027
23 ulnar bowing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003031
24 short tibia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005736
25 limited wrist movement 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006248
26 dorsal subluxation of ulna 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006459
27 abnormal carpal morphology 30 Hallmark (90%) HP:0001191
28 abnormal hip bone morphology 30 Hallmark (90%) HP:0003272
29 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
30 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002857
31 elbow dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0003042
32 abnormal calvaria morphology 30 Frequent (33%) HP:0002683
33 scoliosis 30 HP:0002650
34 high palate 30 HP:0000218
35 abnormality of the ulna 58 Very frequent (99-80%)
36 abnormality of the metaphysis 58 Very frequent (99-80%)
37 abnormality of the hip bone 58 Very frequent (99-80%)
38 short 4th metacarpal 30 HP:0010044
39 short toe 30 HP:0001831
40 limited elbow movement 30 HP:0002996
41 abnormality of tibia morphology 58 Very frequent (99-80%)
42 abnormality of epiphysis morphology 58 Very frequent (99-80%)
43 abnormality of pelvic girdle bone morphology 58 Very frequent (99-80%)
44 skeletal muscle hypertrophy 30 HP:0003712
45 coxa valga 30 HP:0002673
46 abnormality of calvarial morphology 58 Frequent (79-30%)
47 fibular hypoplasia 30 HP:0003038
48 abnormality of the carpal bones 58 Very frequent (99-80%)
49 abnormality of the radius 58 Very frequent (99-80%)
50 multiple exostoses 30 HP:0002762

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 SHOX

Anatomical Context for Leri-Weill Dyschondrosteosis

Organs/tissues related to Leri-Weill Dyschondrosteosis:

MalaCards : Bone, Skeletal Muscle, Eye

Publications for Leri-Weill Dyschondrosteosis

Articles related to Leri-Weill Dyschondrosteosis:

(show top 50) (show all 305)
# Title Authors PMID Year
1
SHOX point mutations in dyschondrosteosis. 53 62 57 5
11403039 2001
2
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. 53 62 57 5
11030412 2000
3
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). 53 62 57 5
9590292 1998
4
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. 62 57 5
22791839 2012
5
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. 62 57 5
21712857 2011
6
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. 62 57 5
9590293 1998
7
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. 53 62 57
17200153 2007
8
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. 53 62 57
16227037 2005
9
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. 53 62 57
16175500 2005
10
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. 53 62 5
15356038 2004
11
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia. 53 62 57
15173249 2004
12
Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome. 53 62 57
15173321 2004
13
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. 53 62 57
10507731 1999
14
SHOX triggers the lysosomal pathway of apoptosis via oxidative stress. 62 5
24186869 2014
15
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. 62 57
19578035 2009
16
Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. 62 57
14557470 2003
17
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. 62 57
12476453 2003
18
Complete SHOX deficiency causes Langer mesomelic dysplasia. 62 5
12116254 2002
19
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. 62 5
12116253 2002
20
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 62 5
11889214 2002
21
Phenotypes Associated with SHOX Deficiency. 62 57
11739418 2001
22
Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome. 62 57
10713888 2000
23
X/Y translocation in a family with Leri-Weill dyschondrosteosis. 62 57
10543407 1999
24
Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis. 62 57
7769845 1995
25
A possibly new form of familial bone dysplasia resembling dyschondrosteosis. 62 57
6844051 1983
26
Clinical variation in dyschondrosteosis. A report on 13 individuals in 8 families. 62 57
7096409 1982
27
Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis. 62 57
7428776 1980
28
Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis. 62 57
7365762 1980
29
Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis. 62 57
429003 1979
30
Mesomelic dwarfism as the homozygous expression of dyschondrosteosis. 62 57
1121969 1975
31
Dyschondrosteosis (mesomelic dwarfism)--a family study. 62 57
4433973 1974
32
Dyschondrosteosis. A Mexican family with two affected males. 62 57
5054807 1972
33
[Familial dyschondrosteosis. Study of 3 cases (mother and her 2 sons)]. 62 57
4301239 1968
34
Dyschondrosteosis. The most common cause of Madelung's deformity. 62 57
5903314 1966
35
DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES. 62 57
14344358 1965
36
The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. 5
17935511 2007
37
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. 57
17091221 2007
38
SHOX deficiency phenotypes. 57
12915706 2003
39
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. 57
11944980 2002
40
SHOX haploinsufficiency and overdosage: impact of gonadal function status. 57
11134233 2001
41
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. 57
9609995 1998
42
Linkage of skeletal dysplasia gene to t(2;8)(q32;p13) chromosome translocation breakpoint. 57
6486174 1984
43
Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13). 57
6660251 1983
44
Dyschondrosteose. Mesomelic dwarfism of Lwei and Weill. 57
5493830 1970
45
Madelung's deformity with conductive hearing loss. 57
5410085 1970
46
Madelung's deformity: observations in 17 patients. 57
5350668 1969
47
MADELUNG'S DEFORMITY. 57
17857243 1938
48
Imaging of SHOX-associated anomalies. 53 62
19724992 2009
49
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA). 53 62
19169498 2008
50
[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]. 53 62
18797583 2008

Variations for Leri-Weill Dyschondrosteosis

ClinVar genetic disease variations for Leri-Weill Dyschondrosteosis:

5 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHOX NM_000451.4(SHOX):c.597C>G (p.Tyr199Ter) SNV Pathogenic
9873 rs137852553 GRCh37: Y:551786-551786
GRCh38: X:641051-641051
2 LOC107652445, SHOX NM_000451.4(SHOX):c.394C>G (p.Leu132Val) SNV Pathogenic
9875 rs137852554 GRCh37: Y:545469-545469
GRCh38: X:634734-634734
3 LOC107652445, SHOX NM_000451.4(SHOX):c.458G>T (p.Arg153Leu) SNV Pathogenic
9876 rs137852555 GRCh37: Y:545533-545533
GRCh38: X:634798-634798
4 SHOX NM_000451.4(SHOX):c.517C>T (p.Arg173Cys) SNV Pathogenic
9878 rs137852556 GRCh37: Y:551586-551586
GRCh38: X:640851-640851
5 SHOX NM_000451.4(SHOX):c.502C>T (p.Arg168Trp) SNV Pathogenic
9879 rs137852557 GRCh37: X:601571-601571
GRCh38: Y:640836-640836
6 LOC107652445, SHOX NM_000451.4(SHOX):c.304G>T (p.Glu102Ter) SNV Pathogenic
9882 rs137852558 GRCh37: X:595379-595379
GRCh38: Y:634644-634644
7 SHOX SHOX, 1.1-MB DEL DEL Pathogenic
9884 GRCh37:
GRCh38:
8 SHOX NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) SNV Pathogenic
29994 rs397514461 GRCh37: X:601577-601577
GRCh38: X:640842-640842
9 SHOX NM_000451.4(SHOX):c.509C>A (p.Ala170Asp) SNV Pathogenic
29995 rs397514462 GRCh37: X:601578-601578
GRCh38: X:640843-640843
10 SHOX NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup) MICROSAT Pathogenic
1686185 GRCh37: X:591692-591693
GRCh38: X:630957-630958
11 LOC107652445, SHOX NM_000451.4(SHOX):c.334C>T (p.Gln112Ter) SNV Pathogenic
1686186 GRCh37: X:595409-595409
GRCh38: X:634674-634674
12 LOC107652445, SHOX NM_000451.4(SHOX):c.335A>C (p.Gln112Pro) SNV Pathogenic
1686187 GRCh37: X:595410-595410
GRCh38: X:634675-634675
13 LOC107652445, SHOX NM_000451.4(SHOX):c.463G>C (p.Gly155Arg) SNV Pathogenic
1686189 GRCh37: X:595538-595538
GRCh38: X:634803-634803
14 SHOX NM_000451.4(SHOX):c.670G>A (p.Ala224Thr) SNV Pathogenic
1686190 GRCh37: X:605162-605162
GRCh38: X:644427-644427
15 SHOX NM_000451.4(SHOX):c.673CACCCGCACCTG[1] (p.225HPHL[1]) MICROSAT Pathogenic
1686191 GRCh37: X:605164-605175
GRCh38: X:644429-644440
16 SHOX NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3]) MICROSAT Pathogenic
1686192 GRCh37: X:605163-605164
GRCh38: X:644428-644429
17 SHOX NM_000451.4(SHOX):c.805del (p.Ser269fs) DEL Pathogenic
1686193 GRCh37: X:605294-605294
GRCh38: X:644559-644559
18 SHOX NM_000451.4(SHOX):c.728dup (p.Pro244fs) DUP Pathogenic
9880 rs757845999 GRCh37: X:605214-605215
GRCh38: X:644479-644480
19 SHOX NM_000451.4(SHOX):c.728del (p.Pro243fs) DEL Pathogenic
805452 rs757845999 GRCh37: X:605215-605215
GRCh38: X:644480-644480
20 SHOX NM_000451.4(SHOX):c.-19G>A SNV Pathogenic
933226 rs201157428 GRCh37: X:591614-591614
GRCh38: X:630879-630879
21 SHOX NM_000451.4(SHOX):c.518G>A (p.Arg173His) SNV Pathogenic
1256555 GRCh37: X:601587-601587
GRCh38: X:640852-640852
22 SHOX NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) SNV Pathogenic
9872 rs137852552 GRCh37: X:601772-601772
GRCh38: X:641037-641037
23 SHOX NG_009385.2:(?_5001)_(40068_?)del DEL Pathogenic
9874 GRCh37:
GRCh38:
24 SHOX NM_006883.2(SHOX):c.-432-3C>A SNV Pathogenic
1683250 GRCh37: X:591198-591198
GRCh38: X:630463-630463
25 SHOX NC_000024.9:g.730550_778092del DEL Pathogenic
66087 GRCh37: X:730550-778092
GRCh38:
26 SHOX NM_000451.4(SHOX):c.181del (p.Glu61fs) DEL Pathogenic
9877 GRCh37: X:591812-591812
GRCh38: X:631077-631077
27 LOC107652445, SHOX NM_000451.4(SHOX):c.431C>A (p.Ala144Asp) SNV Likely Pathogenic
1319419 GRCh37: X:595506-595506
GRCh38: X:634771-634771
28 SHOX NM_000451.4(SHOX):c.250G>T (p.Glu84Ter) SNV Likely Pathogenic
1333444 GRCh37: X:591882-591882
GRCh38: X:631147-631147
29 LOC107652445, SHOX NM_000451.4(SHOX):c.463G>T (p.Gly155Trp) SNV Uncertain Significance
1333546 GRCh37: X:595538-595538
GRCh38: X:634803-634803
30 SHOX NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) SNV Uncertain Significance
9883 rs137852559 GRCh37: Y:555369-555369
GRCh38: Y:644634-644634
31 overlap with 2 genes DEL Uncertain Significance
560137 GRCh37: X:781071-819225
GRCh38: X:820337-843143

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

73
# 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

Expression for Leri-Weill Dyschondrosteosis

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

Pathways for Leri-Weill Dyschondrosteosis

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

# Super pathways Score Top Affiliating Genes
1 10.05 NPR2 FGFR3

GO Terms for Leri-Weill Dyschondrosteosis

Sources for Leri-Weill Dyschondrosteosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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