WMS1
MCID: WLL027
MIFTS: 39

Weill-Marchesani Syndrome 1, Recessive (WMS1) malady

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases, Bone 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 1 70 27
Weill-Marchesani Syndrome, Autosomal Recessive 68
Autosomal Recessive Weill-Marchesani Syndrome 70
Weill-Marchesani Syndrome, Autosomal Dominant 68
 
Congenital Mesodermal Dysmorphodystrophy 70
Spherophakia-Brachymorphia Syndrome 70
Weill-Marchesani Syndrome 68
Wms1 70

Characteristics:

HPO:

64
weill-marchesani syndrome 1, recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 277600
MedGen37 C1869114
MeSH39 D056846

Summaries for Weill-Marchesani Syndrome 1, Recessive

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OMIM:52 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 1, is related to weill-marchesani syndrome and weill-marchesani syndrome 2, dominant, and has symptoms including joint stiffness, joint stiffness and joint stiffness. 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 Degradation of the extracellular matrix and Phospholipase-C Pathway. Affiliated tissues include eye and cortex, and related mouse phenotype Decreased viability.

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.

Related Diseases for Weill-Marchesani Syndrome 1, Recessive

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Graphical network of 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 (show all 32)
id Description HPO Frequency HPO Source Accession
1 narrow palate64 HP:0000189
2 brachycephaly64 HP:0000248
3 hypoplasia of the maxilla64 HP:0000327
4 glaucoma64 HP:0000501
5 cataract64 HP:0000518
6 shallow orbits64 HP:0000586
7 shallow anterior chamber64 HP:0000594
8 blindness64 HP:0000618
9 misalignment of teeth64 HP:0000692
10 broad ribs64 HP:0000885
11 ectopia lentis64 HP:0001083
12 brachydactyly syndrome64 HP:0001156
13 broad palm64 HP:0001169
14 broad metacarpals64 HP:0001230
15 intellectual disability, mild64 HP:0001256
16 joint stiffness64 HP:0001387
17 ventricular septal defect64 HP:0001629
18 pulmonic stenosis64 HP:0001642
19 patent ductus arteriosus64 HP:0001643
20 aortic valve stenosis64 HP:0001650
21 mitral regurgitation64 HP:0001653
22 broad metatarsal64 HP:0001783
23 scoliosis64 HP:0002650
24 broad skull64 HP:0002682
25 thin bony cortex64 HP:0002753
26 lumbar hyperlordosis64 HP:0002938
27 spinal canal stenosis64 HP:0003416
28 proportionate short stature64 HP:0003508
29 depressed nasal bridge64 HP:0005280
30 abnormality of dental morphology64 HP:0006482
31 broad phalanges of the hand64 HP:0009768
32 severe myopia64 HP:0011003

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

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 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, Cortex

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0FBN1, FBN2, FBN3, LTBP2
2
Show member pathways
9.0FBN1, FBN2, FBN3, LTBP2
39.0FBN1, FBN2, FBN3, LTBP2
4
Show member pathways
9.0FBN1, FBN2, FBN3, LTBP2
5
Show member pathways
7.2ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
6
Show member pathways
7.2ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
7
Show member pathways
7.2ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
8
Show member pathways
7.2ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
9
Show member pathways
7.2ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4

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:000152710.1ADAMTS10, FBN1, FBN2
2endoplasmic reticulum lumenGO:00057889.7ADAMTS13, ADAMTSL4, FBN1
3extracellular matrixGO:00310127.2ADAMTS10, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4, FBN1
4extracellular regionGO:00055766.4ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
5proteinaceous extracellular matrixGO:00055785.8ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4

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:004301010.5FBN1, FBN2
2embryonic eye morphogenesisGO:004804810.5FBN1, FBN2
3extracellular matrix disassemblyGO:002261710.5FBN1, FBN2
4protein O-linked fucosylationGO:003606610.0ADAMTS13, ADAMTSL4
5sequestering of TGFbeta in extracellular matrixGO:00355839.8FBN1, FBN2
6extracellular matrix organizationGO:00301989.5ADAMTSL2, ADAMTSL4, FBN1, FBN2
7regulation of cellular response to growth factor stimulusGO:00902879.3FBN1, FBN2, FBN3
8proteolysisGO:00065087.4ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix constituent conferring elasticityGO:003002310.5FBN1, FBN2
2extracellular matrix structural constituentGO:000520110.1FBN1, FBN2, FBN3
3calcium ion bindingGO:00055099.1ADAMTS13, FBN1, FBN2, FBN3, LTBP2
4metallopeptidase activityGO:00082378.5ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2
5metalloendopeptidase activityGO:00042228.0ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
6peptidase activityGO:00082337.9ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS6, ADAMTSL2, ADAMTSL4
7zinc 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
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