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 52 12
Weill-Marchesani Syndrome 11 23 48 24 25 54 39 13 68
Spherophakia-Brachymorphia Syndrome 48 25 54 70
Marchesani-Weill Syndrome 11 25 27
Congenital Mesodermal Dysmorphodystrophy 25 70
Weill-Marchesani Syndrome 1 70 27
Gemss Syndrome 11 68
Wms 48 25
Weill-Marchesani Syndrome, Autosomal Recessive 68
Weill-Marchesani Syndrome, Autosomal Dominant 68
 
Autosomal Recessive Weill-Marchesani Syndrome 70
Mesodermal Dysmorphodystrophy, Congenital 11
Mesodermal Dysmorphodystrophy Congenital 48
Brachymorphy with Spherophakia Syndrome 25
Spherophakia Brachymorphia Syndrome 11
Brachydactyly-Spherophakia Syndrome 25
Congenital Mesodermal Dystrophy 11
Marchesani Syndrome 25
Wm Syndrome 48
Wms1 70

Characteristics:

Orphanet epidemiological data:

54
weill-marchesani syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
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:

OMIM52 277600
Disease Ontology11 DOID:0050475
MeSH39 D056846
NCIt45 C85226
Orphanet54 ORPHA3449
SNOMED-CT62 205801004, 2884008
UMLS via Orphanet69 C0265313
MESH via Orphanet40 D056846
ICD10 via Orphanet31 Q87.0
MedGen37 C1869114

Summaries for Weill-Marchesani Syndrome 1, Recessive

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NIH Rare Diseases:48 Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this condition have short stature; short fingers; and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. Occasionally patients with this condition have heart defects. In some families this condition is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTPBP2 genes. Weill-Marchesani syndrome can also have autosomal dominant inheritance, and a FBN1 gene mutation has been found in one family. People with this condition usually need regular eye exams and sometimes need eye surgery. Last updated: 10/3/2013

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, and related mouse phenotype Decreased viability.

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.

OMIM:52 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint... (277600) more...

UniProtKB/Swiss-Prot:70 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 & Phenotypes 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:

 64 54 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma64 54 hallmark (90%) Very frequent (99-80%) HP:0000501
2 myopia64 hallmark (90%) HP:0000545
3 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short toe64 hallmark (90%) HP:0001831
5 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
6 aplasia/hypoplasia of the lens64 hallmark (90%) HP:0008063
7 thickened skin64 54 typical (50%) Frequent (79-30%) HP:0001072
8 ectopia lentis64 54 typical (50%) Frequent (79-30%) HP:0001083
9 limitation of joint mobility64 54 typical (50%) Frequent (79-30%) HP:0001376
10 intellectual disability, mild64 54 11% Occasional (29-5%) HP:0001256
11 visual impairment64 occasional (7.5%) HP:0000505
12 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
13 ventricular septal defect64 54 occasional (7.5%) Occasional (29-5%) HP:0001629
14 abnormality of the mitral valve64 occasional (7.5%) HP:0001633
15 abnormality of the pulmonary valve64 occasional (7.5%) HP:0001641
16 abnormality of the aortic valve64 occasional (7.5%) HP:0001646
17 cognitive impairment64 occasional (7.5%) HP:0100543
18 narrow palate64 HP:0000189
19 brachycephaly64 HP:0000248
20 hypoplasia of the maxilla64 HP:0000327
21 shallow orbits64 HP:0000586
22 shallow anterior chamber64 HP:0000594
23 blindness64 HP:0000618
24 misalignment of teeth64 HP:0000692
25 broad ribs64 HP:0000885
26 broad palm64 HP:0001169
27 broad metacarpals64 HP:0001230
28 joint stiffness64 HP:0001387
29 pulmonic stenosis64 54 Occasional (29-5%) HP:0001642
30 patent ductus arteriosus64 HP:0001643
31 aortic valve stenosis64 54 Occasional (29-5%) HP:0001650
32 mitral regurgitation64 54 Occasional (29-5%) HP:0001653
33 broad metatarsal64 HP:0001783
34 scoliosis64 HP:0002650
35 broad skull64 HP:0002682
36 thin bony cortex64 HP:0002753
37 lumbar hyperlordosis64 HP:0002938
38 spinal canal stenosis64 HP:0003416
39 proportionate short stature64 HP:0003508
40 depressed nasal bridge64 HP:0005280
41 abnormality of dental morphology64 HP:0006482
42 broad phalanges of the hand64 HP:0009768
43 severe myopia64 54 Very frequent (99-80%) HP:0011003
44 visual loss54 Occasional (29-5%)
45 malformation of the heart and great vessels54 Frequent (79-30%)
46 short thumb54 Very frequent (99-80%)

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


joint stiffness

GenomeRNAi Phenotypes related to Weill-Marchesani Syndrome 1, Recessive according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-19.5ADAMTS17, FBN3

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 Syndrome27 24 LTBP2
2 Weill-Marchesani Syndrome 127

Anatomical Context for Weill-Marchesani Syndrome 1, Recessive

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

36
Eye, Skin, Heart, Cortex, Bone

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:

70
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:00310129.1ADAMTS10, 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
1camera-type eye developmentGO:004301010.3FBN1, FBN2
2embryonic eye morphogenesisGO:004804810.3FBN1, FBN2
3extracellular matrix disassemblyGO:002261710.3FBN1, FBN2
4protein O-linked fucosylationGO:00360669.9ADAMTS13, ADAMTSL4
5sequestering of TGFbeta in extracellular matrixGO:00355839.6FBN1, FBN2
6extracellular matrix organizationGO:00301989.5ADAMTSL2, ADAMTSL4, FBN1, FBN2
7regulation of cellular response to growth factor stimulusGO:00902879.1FBN1, FBN2, FBN3
8proteolysisGO:00065087.7ADAMTS10, 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:003002310.3FBN1, FBN2
2extracellular matrix structural constituentGO:00052019.8FBN1, FBN2, FBN3
3metallopeptidase activityGO:00082379.7ADAMTS13, ADAMTS6
4calcium ion bindingGO:00055098.7ADAMTS13, FBN1, FBN2, FBN3, LTBP2
5metalloendopeptidase activityGO:00042228.2ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
6zinc ion bindingGO:00082707.9ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2

Sources for Weill-Marchesani Syndrome 1, Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet