MCID: WLL027
MIFTS: 44

Weill-Marchesani Syndrome 1, Recessive malady

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

Aliases & Classifications for Weill-Marchesani Syndrome 1, Recessive

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Aliases & Descriptions for Weill-Marchesani Syndrome 1, Recessive:

Name: Weill-Marchesani Syndrome 1, Recessive 51 12
Weill-Marchesani Syndrome 11 23 47 24 25 53 38 13 67
Spherophakia-Brachymorphia Syndrome 47 25 53 69
Marchesani-Weill Syndrome 11 25 26
Congenital Mesodermal Dysmorphodystrophy 25 69
Weill-Marchesani Syndrome 1 69 26
Gemss Syndrome 11 67
Wms 47 25
Weill-Marchesani Syndrome, Autosomal Recessive 67
Weill-Marchesani Syndrome, Autosomal Dominant 67
 
Autosomal Recessive Weill-Marchesani Syndrome 69
Mesodermal Dysmorphodystrophy, Congenital 11
Mesodermal Dysmorphodystrophy Congenital 47
Brachymorphy with Spherophakia Syndrome 25
Spherophakia Brachymorphia Syndrome 11
Brachydactyly-Spherophakia Syndrome 25
Congenital Mesodermal Dystrophy 11
Marchesani Syndrome 25
Wm Syndrome 47
Wms1 69

Characteristics:

Orphanet epidemiological data:

53
weill-marchesani syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
weill-marchesani syndrome 1, recessive:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: the penetrance in those with autosomal recessive wms caused by homozygous adamts10 mutations is thought to be 100%...


Classifications:



External Ids:

OMIM51 277600
Disease Ontology11 DOID:0050475
MeSH38 D056846
NCIt44 C85226
Orphanet53 ORPHA3449
SNOMED-CT61 205801004, 2884008
UMLS via Orphanet68 C0265313
MESH via Orphanet39 D056846
ICD10 via Orphanet30 Q87.0
MedGen36 C1869114

Summaries for Weill-Marchesani Syndrome 1, Recessive

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OMIM:51 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint... (277600) more...

MalaCards based summary: Weill-Marchesani Syndrome 1, Recessive, also known as weill-marchesani syndrome, is related to weill-marchesani syndrome 2, dominant and weill-marchesani syndrome 3, recessive, and has symptoms including glaucoma, myopia and brachydactyly syndrome. An important gene associated with Weill-Marchesani Syndrome 1, Recessive is ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10), and among its related pathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye, skin and heart.

Disease Ontology:11 An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Genetics Home Reference:25 Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.

UniProtKB/Swiss-Prot:69 Weill-Marchesani syndrome 1: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.

GeneReviews for NBK1114

Related Diseases for Weill-Marchesani Syndrome 1, Recessive

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Diseases in the Weill-Marchesani-Like Syndrome family:

Weill-Marchesani Syndrome 3, Recessive Weill-Marchesani Syndrome 2, Dominant
weill-marchesani syndrome 1, recessive Adamts10-Related Weill-Marchesani Syndrome
Fbn1-Related Weill-Marchesani Syndrome Ltbp2-Related Weill-Marchesani Syndrome

Diseases related to Weill-Marchesani Syndrome 1, Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1weill-marchesani syndrome 2, dominant12.6
2weill-marchesani syndrome 3, recessive12.5
3ltbp2-related weill-marchesani syndrome12.2
4adamts10-related weill-marchesani syndrome12.1
5fbn1-related weill-marchesani syndrome12.1
6weill-marchesani-like syndrome11.3
7ectopia lentis, isolated, autosomal recessive11.2
8geleophysic dysplasia 111.2
9microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma11.2
10acromicric dysplasia11.2
11glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome11.1
12waldenstrom macroglobulinemia11.1
13macroglobulinemia, waldenstrom 111.1
14williams-beuren syndrome10.9
15hypoplastic or aplastic tibia with polydactyly10.8
16hemolytic uremic syndrome, atypical 510.4ADAMTS10, LTBP2
17geleophysic dysplasia10.3
18retinitis10.2
19webb-dattani syndrome10.2ADAMTS17, LTBP2
20genetic prion diseases10.1ADAMTSL2, FBN1
21posterior uveitis10.1FBN1, LTBP2
22marfan syndrome10.1
23retinitis pigmentosa10.1
24aortic disease10.1
25thyroiditis10.1
26endotheliitis10.1
27spinal cancer10.1FBN1, FBN2
28ulcer of lower limbs10.0ADAMTS10, ADAMTS17, ADAMTSL2
29sclerosteosis10.0FBN1, FBN2
30visual epilepsy9.9ADAMTS10, ADAMTS17, FBN1
31popliteal pterygium syndrome 19.9FBN1, FBN2
32ectopia lentis, familial9.9FBN1, FBN2, LTBP2
33poikiloderma with neutropenia9.7FBN1, FBN2
34high pressure neurological syndrome9.7ADAMTS10, ADAMTS17, ADAMTSL2, FBN1
35endemic typhus7.4ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2, ADAMTSL4, FBN1

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome 1, Recessive:



Diseases related to weill-marchesani syndrome 1, recessive

Symptoms for Weill-Marchesani Syndrome 1, Recessive

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Symptoms by clinical synopsis from OMIM:

277600

Clinical features from OMIM:

277600

Human phenotypes related to Weill-Marchesani Syndrome 1, Recessive:

 63 53 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma63 53 hallmark (90%) Very frequent (99-80%) HP:0000501
2 myopia63 hallmark (90%) HP:0000545
3 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short toe63 hallmark (90%) HP:0001831
5 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
6 aplasia/hypoplasia of the lens63 hallmark (90%) HP:0008063
7 thickened skin63 53 typical (50%) Frequent (79-30%) HP:0001072
8 ectopia lentis63 53 typical (50%) Frequent (79-30%) HP:0001083
9 limitation of joint mobility63 53 typical (50%) Frequent (79-30%) HP:0001376
10 intellectual disability, mild63 53 11% Occasional (29-5%) HP:0001256
11 visual impairment63 occasional (7.5%) HP:0000505
12 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
13 ventricular septal defect63 53 occasional (7.5%) Occasional (29-5%) HP:0001629
14 abnormality of the mitral valve63 occasional (7.5%) HP:0001633
15 abnormality of the pulmonary valve63 occasional (7.5%) HP:0001641
16 abnormality of the aortic valve63 occasional (7.5%) HP:0001646
17 cognitive impairment63 occasional (7.5%) HP:0100543
18 narrow palate63 HP:0000189
19 brachycephaly63 HP:0000248
20 hypoplasia of the maxilla63 HP:0000327
21 shallow orbits63 HP:0000586
22 shallow anterior chamber63 HP:0000594
23 blindness63 HP:0000618
24 misalignment of teeth63 HP:0000692
25 broad ribs63 HP:0000885
26 broad palm63 HP:0001169
27 broad metacarpals63 HP:0001230
28 joint stiffness63 HP:0001387
29 pulmonic stenosis63 53 Occasional (29-5%) HP:0001642
30 patent ductus arteriosus63 HP:0001643
31 aortic valve stenosis63 53 Occasional (29-5%) HP:0001650
32 mitral regurgitation63 53 Occasional (29-5%) HP:0001653
33 broad metatarsal63 HP:0001783
34 scoliosis63 HP:0002650
35 broad skull63 HP:0002682
36 thin bony cortex63 HP:0002753
37 lumbar hyperlordosis63 HP:0002938
38 spinal canal stenosis63 HP:0003416
39 proportionate short stature63 HP:0003508
40 depressed nasal bridge63 HP:0005280
41 abnormality of dental morphology63 HP:0006482
42 broad phalanges of the hand63 HP:0009768
43 severe myopia63 53 Very frequent (99-80%) HP:0011003
44 visual loss53 Occasional (29-5%)
45 malformation of the heart and great vessels53 Frequent (79-30%)
46 short thumb53 Very frequent (99-80%)

UMLS symptoms related to Weill-Marchesani Syndrome 1, Recessive:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 1, Recessive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Weill-Marchesani Syndrome 1, Recessive


Cochrane evidence based reviews: weill-marchesani syndrome

Genetic Tests for Weill-Marchesani Syndrome 1, Recessive

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Genetic tests related to Weill-Marchesani Syndrome 1, Recessive:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome26 24 LTBP2
2 Weill-Marchesani Syndrome 126

Anatomical Context for Weill-Marchesani Syndrome 1, Recessive

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MalaCards organs/tissues related to Weill-Marchesani Syndrome 1, Recessive:

35
Eye, Skin, Heart, Cortex, Bone

Animal Models for Weill-Marchesani Syndrome 1, Recessive or affiliated genes

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Publications for Weill-Marchesani Syndrome 1, Recessive

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Variations for Weill-Marchesani Syndrome 1, Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Weill-Marchesani Syndrome 1, Recessive:

69
id Symbol AA change Variation ID SNP ID
1ADAMTS10p.Ala25ThrVAR_054439

Clinvar genetic disease variations for Weill-Marchesani Syndrome 1, Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADAMTS10NM_030957.3(ADAMTS10): c.709C> T (p.Arg237Ter)SNVPathogenicrs121434357GRCh37Chr 19, 8665913: 8665913
2ADAMTS10NM_030957.3(ADAMTS10): c.1190+1G> ASNVPathogenicrs431825170GRCh37Chr 19, 8661190: 8661190
3ADAMTS10NM_030957.3(ADAMTS10): c.810+1G> ASNVPathogenicrs387906266GRCh37Chr 19, 8665811: 8665811
4ADAMTS10NM_030957.3(ADAMTS10): c.73G> A (p.Ala25Thr)SNVPathogenicrs121434358GRCh37Chr 19, 8670523: 8670523
5ADAMTS10NM_030957.3(ADAMTS10): c.952C> T (p.Gln318Ter)SNVPathogenicrs121434359GRCh37Chr 19, 8661959: 8661959
6ADAMTS10NM_030957.3(ADAMTS10): c.1553G> A (p.Gly518Asp)SNVPathogenicrs267606636GRCh37Chr 19, 8657681: 8657681
7ADAMTS10NM_030957.3(ADAMTS10): c.2098G> T (p.Gly700Cys)SNVPathogenicrs267606637GRCh37Chr 19, 8654186: 8654186
8LTBP2NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met)SNVPathogenicrs137854856GRCh37Chr 14, 74975430: 74975430

Expression for genes affiliated with Weill-Marchesani Syndrome 1, Recessive

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Search GEO for disease gene expression data for Weill-Marchesani Syndrome 1, Recessive.

Pathways for genes affiliated with Weill-Marchesani Syndrome 1, Recessive

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GO Terms for genes affiliated with Weill-Marchesani Syndrome 1, Recessive

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Cellular components related to Weill-Marchesani Syndrome 1, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:00015279.9ADAMTS10, FBN1, FBN2
2extracellular matrixGO:00310128.2ADAMTS10, FBN1, FBN2, FBN3, LTBP2
3proteinaceous extracellular matrixGO:00055786.6ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4, FBN1

Biological processes related to Weill-Marchesani Syndrome 1, Recessive according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:003558310.3FBN1, FBN2
2embryonic eye morphogenesisGO:004804810.2FBN1, FBN2
3extracellular matrix disassemblyGO:002261710.0FBN1, FBN2
4camera-type eye developmentGO:00430109.9FBN1, FBN2
5protein O-linked fucosylationGO:00360669.7ADAMTS13, ADAMTSL4
6regulation of cellular response to growth factor stimulusGO:00902879.2FBN1, FBN2, FBN3
7extracellular matrix organizationGO:00301988.8ADAMTSL2, ADAMTSL4, FBN1, FBN2
8proteolysisGO:00065087.5ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4

Molecular functions related to Weill-Marchesani Syndrome 1, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix constituent conferring elasticityGO:003002310.2FBN1, FBN2
2extracellular matrix structural constituentGO:00052019.6FBN1, FBN2, FBN3
3metallopeptidase activityGO:00082379.0ADAMTS13, ADAMTS6
4metalloendopeptidase activityGO:00042227.9ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
5calcium ion bindingGO:00055097.9ADAMTS13, FBN1, FBN2, FBN3, LTBP2
6zinc ion bindingGO:00082707.8ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2

Sources for Weill-Marchesani Syndrome 1, Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet