WNCHRS
MCID: WNC001
MIFTS: 44

Winchester Syndrome (WNCHRS)

Categories: Bone diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Winchester Syndrome

MalaCards integrated aliases for Winchester Syndrome:

Name: Winchester Syndrome 57 11 19 42 75 73 28 5 14
Wnchrs 57 42 73
Winchester-Grossman Syndrome 19 5
Winchester Disease 19 42

Classifications:



External Ids:

Disease Ontology 11 DOID:0080696
OMIM® 57 277950
MedGen 40 C0432289

Summaries for Winchester Syndrome

MedlinePlus Genetics: 42 Winchester syndrome is a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. Winchester syndrome used to be considered part of a related condition now called multicentric osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to be separate disorders.In most cases of Winchester syndrome, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities later spread to other parts of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with Winchester syndrome develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature.Some people with Winchester syndrome have skin abnormalities including patches of dark, thick, and leathery skin. Other features of the condition can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse."

MalaCards based summary: Winchester Syndrome, also known as wnchrs, is related to multicentric osteolysis, nodulosis, and arthropathy and multicentric osteolysis-nodulosis-arthropathy spectrum. An important gene associated with Winchester Syndrome is MMP14 (Matrix Metallopeptidase 14), and among its related pathways/superpathways are Diseases of glycosylation and Extracellular matrix organization. Affiliated tissues include bone, skin and eye, and related phenotypes are kyphosis and coarse facial features

OMIM®: 57 Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007). (277950) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 A disease characterized by severe osteolysis in the hands and feet, generalized osteoporosis, bone thinning, and absence of subcutaneous nodules. Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes.

Disease Ontology: 11 A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet.

Wikipedia: 75 Winchester syndrome is a rare hereditary connective tissue disease described in 1969, of which the main... more...

Related Diseases for Winchester Syndrome

Diseases related to Winchester Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 multicentric osteolysis, nodulosis, and arthropathy 32.9 MMP2 LPCAT2
2 multicentric osteolysis-nodulosis-arthropathy spectrum 32.2 MMP2 MMP14
3 gingival hypertrophy 30.1 TIMP2 ANTXR2
4 multicentric carpotarsal osteolysis syndrome 11.1
5 arthropathy 10.3
6 osteoarthritis 10.3
7 breast intraductal papillomatosis 10.2 TIMP2 MMP14
8 dentin caries 10.2 TIMP2 MMP2
9 suppurative periapical periodontitis 10.2 MMP24 MMP2
10 hypertrichosis 10.2
11 asymptomatic dengue 10.2 MMP24 MMP15
12 frank-ter haar syndrome 10.1 SH3PXD2B MMP14
13 supraglottis cancer 10.1 MMP16 MMP15 MMP14
14 osteochondrodysplasia 10.1
15 cervical squamous cell carcinoma 10.1 TIMP2 MMP2 MMP14
16 otopalatodigital syndrome spectrum disorder 10.1 SH3PXD2B MMP14
17 aortic aneurysm, familial abdominal, 1 10.1 TIMP2 MMP2 MMP14
18 inguinal hernia 10.0 TIMP2 MMP2 ADAMTS6
19 stiff skin syndrome 10.0 ANTXR2 ADAMTSL2
20 marfan syndrome 10.0 THSD4 MMP2 MMP14
21 dowling-degos disease 1 10.0
22 gingival overgrowth 10.0
23 lysosomal storage disease 10.0
24 connective tissue disease 10.0
25 acne 10.0
26 arthritis 10.0
27 mucopolysaccharidoses 10.0
28 conjunctivochalasis 9.9 TIMP2 MMP2
29 radial nerve lesion 9.9 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1
30 radial neuropathy 9.8 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1
31 ehlers-danlos syndrome, dermatosparaxis type 9.7 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS4
32 acromicric dysplasia 9.6 THSD4 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1
33 peters-plus syndrome 9.6 THSD4 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1
34 isolated ectopia lentis 9.4 THSD4 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS4
35 geleophysic dysplasia 9.2 THSD4 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6
36 weill-marchesani syndrome 9.1 THSD4 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6
37 aortic aneurysm, familial thoracic 1 9.1 TIMP2 THSD4 PAPLN MMP2 MMP14 ADAMTSL2

Graphical network of the top 20 diseases related to Winchester Syndrome:



Diseases related to Winchester Syndrome

Symptoms & Phenotypes for Winchester Syndrome

Human phenotypes related to Winchester Syndrome:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 kyphosis 30 Very rare (1%) HP:0002808
2 coarse facial features 30 Very rare (1%) HP:0000280
3 hirsutism 30 Very rare (1%) HP:0001007
4 carpal osteolysis 30 Very rare (1%) HP:0001495
5 generalized osteoporosis 30 Very rare (1%) HP:0040160
6 osteolysis involving tarsal bones 30 Very rare (1%) HP:0006234
7 gingival overgrowth 30 HP:0000212
8 arthropathy 30 HP:0003040

Clinical features from OMIM®:

277950 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Winchester Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ADAMTS19 ADAMTS6 ADAMTSL3 ANTXR2 MMP14 MMP15
2 limbs/digits/tail MP:0005371 9.63 ADAMTS6 ADAMTSL2 MMP14 MMP16 SH3PXD2B TIMP2
3 hematopoietic system MP:0005397 9.36 ADAMTS19 ADAMTS6 ADAMTSL3 ANTXR2 HPX LPCAT2

Drugs & Therapeutics for Winchester Syndrome

Search Clinical Trials, NIH Clinical Center for Winchester Syndrome

Genetic Tests for Winchester Syndrome

Genetic tests related to Winchester Syndrome:

# Genetic test Affiliating Genes
1 Winchester Syndrome 28 MMP14

Anatomical Context for Winchester Syndrome

Organs/tissues related to Winchester Syndrome:

MalaCards : Bone, Skin, Eye, Heart

Publications for Winchester Syndrome

Articles related to Winchester Syndrome:

(show all 38)
# Title Authors PMID Year
1
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 62 57 5
22922033 2012
2
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. 62 57 5
17059372 2007
3
A novel homozygous MMP2 mutation in a family with Winchester syndrome. 62 57 5
16542393 2006
4
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 62 57 5
15691365 2005
5
[Biochemical and ultrastructural study of two familial cases of Winchester syndrome]. 62 57 5
2625626 1989
6
A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. 57 5
4238825 1969
7
Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion. 62 57
3428299 1987
8
The Winchester syndrome: a nonlysosomal connective tissue disease. 62 57
4206841 1974
9
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 5
11431697 2001
10
Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed. 5
10356396 1999
11
Winchester's syndrome. 57
2515281 1989
12
An interactive computer graphics study of thermolysin-catalyzed peptide cleavage and inhibition by N-carboxymethyl dipeptides. 5
6525336 1984
13
Peripheral corneal opacification and skeletal deformities. A newly recognized acid mucopolysaccharidosis simulating rheumatoid arthritis. 57
4246484 1970
14
Taurodontism in dental genetics. 62
34244468 2021
15
Anaesthesia management for Winchester syndrome. 62
33776097 2021
16
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling. 62
31218820 2019
17
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. 62
29741626 2018
18
Langerhans Cell Histiocytosis Involving Both Jaws in an Adult. 62
28969735 2017
19
Identification of drug-target interaction from interactome network with 'guilt-by-association' principle and topology features. 62
26614126 2016
20
Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis-A Case Report. 62
26207694 2015
21
A report of three patients with MMP2 associated hereditary osteolysis. 62
22876575 2012
22
The diagnosis and management of patients with idiopathic osteolysis. 62
21995273 2011
23
Winchester syndrome: the progression of radiological findings over a 23-year period. 62
20865259 2011
24
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. 62
20720557 2010
25
Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. 62
19653001 2010
26
Winchester syndrome: a case report. 62
19200197 2009
27
Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. 62
17351352 2007
28
Progressive multilayered banded skin in Winchester syndrome. 62
14726867 2004
29
Winchester syndrome. 62
11794271 2001
30
[Winchester syndrome]. 62
11529039 2001
31
Winchester syndrome. A case report and literature review. 62
1437071 1992
32
Familial vanishing limbs: four generations of idiopathic multicentric osteolysis. 62
6617092 1983
33
The Winchester syndrome: (a case report). 62
730313 1978
34
Winchester syndrome: report of a case from Iran. 62
604368 1977
35
Idiopathic multicentric osteolysis. 62
175680 1976
36
Letter: The Winchester syndrome and mucopolysaccharide metabolism. 62
123957 1975
37
The skin in the Winchester syndrome. 62
1115514 1975
38
The Winchester syndrome: clinical, radiographic and pathologic studies. 62
4462644 1974

Variations for Winchester Syndrome

ClinVar genetic disease variations for Winchester Syndrome:

5 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMP2 NM_004530.6(MMP2):c.302G>A (p.Arg101His) SNV Pathogenic
17108 rs121912953 GRCh37: 16:55516969-55516969
GRCh38: 16:55483057-55483057
2 MMP2 NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys) SNV Pathogenic
17110 rs121912955 GRCh37: 16:55525742-55525742
GRCh38: 16:55491830-55491830
3 MMP2 NM_004530.6(MMP2):c.1357del (p.Gly454fs) DEL Pathogenic
17112 rs1567378779 GRCh37: 16:55527089-55527089
GRCh38: 16:55493177-55493177
4 MMP14 NM_004995.4(MMP14):c.50C>G (p.Thr17Arg) SNV Pathogenic
65463 rs587777039 GRCh37: 14:23306076-23306076
GRCh38: 14:22836867-22836867
5 LPCAT2 NM_017839.5(LPCAT2):c.172-6188G>A SNV Pathogenic
625853 rs1567390809 GRCh37: 16:55553232-55553232
GRCh38: 16:55519320-55519320
6 MMP2 NM_004530.6(MMP2):c.1287del (p.Asn430fs) DEL Pathogenic
198809 rs794727916 GRCh37: 16:55525819-55525819
GRCh38: 16:55491907-55491907
7 MMP2 NM_004530.6(MMP2):c.1289del (p.Asn430fs) DEL Pathogenic
1323283 GRCh37: 16:55525820-55525820
GRCh38: 16:55491908-55491908
8 MMP2 NM_004530.6(MMP2):c.910_916del (p.Ser304fs) DEL Pathogenic
1332689 GRCh37: 16:55522532-55522538
GRCh38: 16:55488620-55488626
9 MMP2 NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter) SNV Pathogenic
915430 rs1962580119 GRCh37: 16:55532239-55532239
GRCh38: 16:55498327-55498327
10 MMP2 NM_004530.6(MMP2):c.691G>T (p.Glu231Ter) SNV Pathogenic
1685950 GRCh37: 16:55519548-55519548
GRCh38: 16:55485636-55485636
11 MMP2 NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter) SNV Pathogenic
17109 rs121912954 GRCh37: 16:55519589-55519589
GRCh38: 16:55485677-55485677
12 MMP2 NM_004530.6(MMP2):c.789C>A (p.Tyr263Ter) SNV Pathogenic
1332865 GRCh37: 16:55519646-55519646
GRCh38: 16:55485734-55485734
13 MMP2 NM_004530.6(MMP2):c.301C>T (p.Arg101Cys) SNV Pathogenic
1341994 GRCh37: 16:55516968-55516968
GRCh38: 16:55483056-55483056
14 MMP2 NM_004530.6(MMP2):c.1199_1201del (p.Val400del) DEL Pathogenic
17111 GRCh37: 16:55525730-55525732
GRCh38: 16:55491818-55491820
15 MMP2 NM_004530.6(MMP2):c.306C>A (p.Cys102Ter) SNV Likely Pathogenic
1332856 GRCh37: 16:55516973-55516973
GRCh38: 16:55483061-55483061
16 MMP2 NM_004530.6(MMP2):c.529G>A (p.Glu177Lys) SNV Likely Pathogenic
1299550 GRCh37: 16:55518076-55518076
GRCh38: 16:55484164-55484164
17 MMP2 NM_004530.6(MMP2):c.1456TTC[2] (p.Phe488del) MICROSAT Likely Pathogenic
1299551 GRCh37: 16:55527187-55527189
GRCh38: 16:55493275-55493277
18 MMP2 NM_004530.6(MMP2):c.1013C>T (p.Ser338Phe) SNV Uncertain Significance
1301666 GRCh37: 16:55523569-55523569
GRCh38: 16:55489657-55489657
19 MMP2 NM_004530.6(MMP2):c.*930C>T SNV Uncertain Significance
319785 rs886052130 GRCh37: 16:55540284-55540284
GRCh38: 16:55506372-55506372
20 MMP2 NM_004530.6(MMP2):c.1229G>T (p.Gly410Val) SNV Uncertain Significance
1332696 GRCh37: 16:55525761-55525761
GRCh38: 16:55491849-55491849
21 MMP2 NM_004530.6(MMP2):c.1627T>C (p.Tyr543His) SNV Uncertain Significance
885202 rs369441378 GRCh37: 16:55532218-55532218
GRCh38: 16:55498306-55498306
22 MMP2 NM_004530.6(MMP2):c.*642T>C SNV Uncertain Significance
885268 rs771470902 GRCh37: 16:55539996-55539996
GRCh38: 16:55506084-55506084
23 MMP2 NM_004530.6(MMP2):c.887G>A (p.Arg296His) SNV Uncertain Significance
886042 rs200786490 GRCh37: 16:55522509-55522509
GRCh38: 16:55488597-55488597
24 MMP2 NM_004530.6(MMP2):c.890T>A (p.Phe297Tyr) SNV Uncertain Significance
886043 rs778881275 GRCh37: 16:55522512-55522512
GRCh38: 16:55488600-55488600
25 MMP2 NM_004530.6(MMP2):c.920C>T (p.Thr307Ile) SNV Uncertain Significance
886044 rs1962320231 GRCh37: 16:55522542-55522542
GRCh38: 16:55488630-55488630
26 MMP2 NM_004530.6(MMP2):c.*799G>A SNV Uncertain Significance
886161 rs112093666 GRCh37: 16:55540153-55540153
GRCh38: 16:55506241-55506241
27 MMP2 NM_004530.6(MMP2):c.*1012T>A SNV Uncertain Significance
886162 rs1447267044 GRCh37: 16:55540366-55540366
GRCh38: 16:55506454-55506454
28 MMP2 NM_004530.6(MMP2):c.*1029G>A SNV Uncertain Significance
886163 rs1962804370 GRCh37: 16:55540383-55540383
GRCh38: 16:55506471-55506471
29 MMP2 NM_004530.6(MMP2):c.*1048C>T SNV Uncertain Significance
886164 rs776889997 GRCh37: 16:55540402-55540402
GRCh38: 16:55506490-55506490
30 MMP2 NM_004530.6(MMP2):c.-147T>A SNV Uncertain Significance
886975 rs1186958598 GRCh37: 16:55513245-55513245
GRCh38: 16:55479333-55479333
31 MMP2 NM_004530.6(MMP2):c.969C>T (p.Tyr323=) SNV Uncertain Significance
887036 rs561800947 GRCh37: 16:55522591-55522591
GRCh38: 16:55488679-55488679
32 MMP2 NM_004530.6(MMP2):c.*43G>A SNV Uncertain Significance
887103 rs751617004 GRCh37: 16:55539397-55539397
GRCh38: 16:55505485-55505485
33 MMP2 NM_004530.6(MMP2):c.*1204A>G SNV Uncertain Significance
Uncertain Significance
887176 rs758075499 GRCh37: 16:55540558-55540558
GRCh38: 16:55506646-55506646
34 MMP2 NM_004530.6(MMP2):c.115G>A (p.Gly39Ser) SNV Uncertain Significance
888243 rs1392610505 GRCh37: 16:55513506-55513506
GRCh38: 16:55479594-55479594
35 MMP2 NM_004530.6(MMP2):c.1276A>C (p.Thr426Pro) SNV Uncertain Significance
888305 rs1962415193 GRCh37: 16:55525808-55525808
GRCh38: 16:55491896-55491896
36 MMP2 NM_004530.6(MMP2):c.1493C>T (p.Thr498Met) SNV Uncertain Significance
888307 rs764961297 GRCh37: 16:55530858-55530858
GRCh38: 16:55496946-55496946
37 MMP2 NM_004530.6(MMP2):c.*250C>T SNV Uncertain Significance
888372 rs776083935 GRCh37: 16:55539604-55539604
GRCh38: 16:55505692-55505692
38 MMP2 NM_004530.6(MMP2):c.*277G>A SNV Uncertain Significance
888373 rs185162550 GRCh37: 16:55539631-55539631
GRCh38: 16:55505719-55505719
39 MMP2 NM_004530.6(MMP2):c.628G>T (p.Asp210Tyr) SNV Uncertain Significance
1029860 rs1230286710 GRCh37: 16:55519309-55519309
GRCh38: 16:55485397-55485397
40 MMP2 NM_004530.6(MMP2):c.380+6G>A SNV Uncertain Significance
1032226 rs373244203 GRCh37: 16:55517053-55517053
GRCh38: 16:55483141-55483141
41 MMP2 NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys) SNV Uncertain Significance
690375 rs1596807866 GRCh37: 16:55517044-55517044
GRCh38: 16:55483132-55483132
42 MMP14 NM_004995.4(MMP14):c.440C>T (p.Ala147Val) SNV Uncertain Significance
803006 rs544049459 GRCh37: 14:23311678-23311678
GRCh38: 14:22842469-22842469
43 MMP14 NM_004995.4(MMP14):c.542T>C (p.Phe181Ser) SNV Uncertain Significance
803007 rs1595014702 GRCh37: 14:23311780-23311780
GRCh38: 14:22842571-22842571
44 MMP2 NM_004530.6(MMP2):c.153+12C>T SNV Uncertain Significance
885134 rs750653987 GRCh37: 16:55513556-55513556
GRCh38: 16:55479644-55479644
45 MMP2 NM_004530.6(MMP2):c.344G>T (p.Arg115Leu) SNV Uncertain Significance
885136 rs112710941 GRCh37: 16:55517011-55517011
GRCh38: 16:55483099-55483099
46 MMP2 NM_004530.6(MMP2):c.474G>A (p.Arg158=) SNV Uncertain Significance
885137 rs144932826 GRCh37: 16:55518021-55518021
GRCh38: 16:55484109-55484109
47 MMP2 NM_004530.6(MMP2):c.1560T>C (p.Ile520=) SNV Uncertain Significance
885201 rs137912216 GRCh37: 16:55530925-55530925
GRCh38: 16:55497013-55497013
48 MMP2 NM_004530.6(MMP2):c.1685C>T (p.Pro562Leu) SNV Uncertain Significance
885204 rs370764157 GRCh37: 16:55532276-55532276
GRCh38: 16:55498364-55498364
49 MMP2 NM_004530.6(MMP2):c.*505T>G SNV Uncertain Significance
885266 rs780960741 GRCh37: 16:55539859-55539859
GRCh38: 16:55505947-55505947
50 MMP2 NM_004530.6(MMP2):c.658+13C>T SNV Uncertain Significance
319749 rs768031015 GRCh37: 16:55519352-55519352
GRCh38: 16:55485440-55485440

UniProtKB/Swiss-Prot genetic disease variations for Winchester Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 MMP14 p.Thr17Arg VAR_070567 rs587777039

Expression for Winchester Syndrome

Search GEO for disease gene expression data for Winchester Syndrome.

Pathways for Winchester Syndrome

Pathways related to Winchester Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 THSD4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6 ADAMTS4
2
Show member pathways
12.51 TIMP2 MMP24 MMP2 MMP16 MMP15 MMP14
3
Show member pathways
12.07 THSD4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6 ADAMTS4
4 11.44 TIMP2 MMP2 MMP16 MMP15 MMP14
5
Show member pathways
11.43 TIMP2 MMP24 MMP2 MMP16 MMP15 MMP14
6
Show member pathways
11.33 THSD4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS6 ADAMTS4

GO Terms for Winchester Syndrome

Cellular components related to Winchester Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.13 ADAMTS19 ADAMTS4 ADAMTS6 ADAMTSL1 ADAMTSL2 ADAMTSL3
2 collagen-containing extracellular matrix GO:0062023 9.85 TIMP2 THSD4 MMP2 HPX ADAMTS4
3 extracellular matrix GO:0031012 9.68 TIMP2 THSD4 PAPLN MMP24 MMP2 MMP16

Biological processes related to Winchester Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.16 ADAMTS19 ADAMTS4 ADAMTS6 MMP14 MMP15 MMP16
2 skeletal system development GO:0001501 9.97 SH3PXD2B MMP16 MMP14 ADAMTS4
3 extracellular matrix disassembly GO:0022617 9.85 SH3PXD2B MMP2 MMP15 MMP14 ADAMTS4
4 endodermal cell differentiation GO:0035987 9.8 MMP2 MMP15 MMP14
5 chondrocyte proliferation GO:0035988 9.78 MMP16 MMP14
6 craniofacial suture morphogenesis GO:0097094 9.76 MMP16 MMP14
7 bone development GO:0060348 9.73 SH3PXD2B MMP16 MMP14
8 tissue remodeling GO:0048771 9.71 MMP2 MMP14
9 extracellular matrix organization GO:0030198 9.7 PAPLN MMP24 MMP2 MMP16 MMP15 MMP14
10 collagen catabolic process GO:0030574 9.65 MMP14 MMP15 MMP16 MMP2 MMP24

Molecular functions related to Winchester Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.33 TIMP2 MMP24 MMP2 MMP16 MMP15 MMP14
2 hydrolase activity GO:0016787 10 THSD4 MMP24 MMP2 MMP16 MMP15 MMP14
3 enzyme activator activity GO:0008047 9.85 MMP15 MMP16 MMP24
4 peptidase activity GO:0008233 9.81 ADAMTS19 ADAMTS4 ADAMTS6 MMP14 MMP15 MMP16
5 metalloaminopeptidase activity GO:0070006 9.8 MMP16 MMP15 MMP14
6 metallopeptidase activity GO:0008237 9.7 MMP24 MMP2 MMP16 MMP15 MMP14 ADAMTS6
7 metalloendopeptidase activity GO:0004222 9.64 PAPLN MMP24 MMP2 MMP16 MMP15 MMP14

Sources for Winchester Syndrome

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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