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

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

Name: Weill-Marchesani Syndrome 1, Recessive 54 13
Weill-Marchesani Syndrome 1 66 29
Weill-Marchesani Syndrome, Autosomal Recessive 69
Autosomal Recessive Weill-Marchesani Syndrome 66
Weill-Marchesani Syndrome, Autosomal Dominant 69
Congenital Mesodermal Dysmorphodystrophy 66
Spherophakia-Brachymorphia Syndrome 66
Weill-Marchesani Syndrome 69
Wms1 66

Characteristics:

HPO:

32
weill-marchesani syndrome 1, recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 277600
MedGen 40 C1869114
MeSH 42 D056846

Summaries for Weill-Marchesani Syndrome 1, Recessive

OMIM : 54 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, scoliosis and narrow palate. 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/superpathways are Metabolism of proteins and HIV Life Cycle. Affiliated tissues include eye and cortex, and related phenotype is Decreased viability.

UniProtKB/Swiss-Prot : 66 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

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

Symptoms by clinical synopsis from OMIM:

277600

Clinical features from OMIM:

277600

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

32 (show all 32)
id Description HPO Frequency HPO Source Accession
1 joint stiffness 32 HP:0001387
2 scoliosis 32 HP:0002650
3 narrow palate 32 HP:0000189
4 cataract 32 HP:0000518
5 depressed nasal bridge 32 HP:0005280
6 blindness 32 HP:0000618
7 intellectual disability, mild 32 HP:0001256
8 brachycephaly 32 HP:0000248
9 broad ribs 32 HP:0000885
10 patent ductus arteriosus 32 HP:0001643
11 mitral regurgitation 32 HP:0001653
12 hypoplasia of the maxilla 32 HP:0000327
13 glaucoma 32 HP:0000501
14 ectopia lentis 32 HP:0001083
15 brachydactyly syndrome 32 HP:0001156
16 ventricular septal defect 32 HP:0001629
17 spinal canal stenosis 32 HP:0003416
18 pulmonic stenosis 32 HP:0001642
19 abnormality of dental morphology 32 HP:0006482
20 aortic valve stenosis 32 HP:0001650
21 misalignment of teeth 32 HP:0000692
22 broad palm 32 HP:0001169
23 lumbar hyperlordosis 32 HP:0002938
24 severe myopia 32 HP:0011003
25 broad metatarsal 32 HP:0001783
26 proportionate short stature 32 HP:0003508
27 thin bony cortex 32 HP:0002753
28 shallow orbits 32 HP:0000586
29 broad metacarpals 32 HP:0001230
30 broad skull 32 HP:0002682
31 shallow anterior chamber 32 HP:0000594
32 broad phalanges of the hand 32 HP:0009768

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.17 ADAMTS17
2 Decreased viability GR00381-A-1 9.17 ADAMTS17 FBN3
3 Decreased viability GR00381-A-2 9.17 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.17 ADAMTS17 FBN3

Drugs & Therapeutics for Weill-Marchesani Syndrome 1, Recessive

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

Genetic Tests for Weill-Marchesani Syndrome 1, Recessive

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

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 1 29

Anatomical Context for Weill-Marchesani Syndrome 1, Recessive

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

39
Eye, Cortex

Publications for Weill-Marchesani Syndrome 1, Recessive

Variations for Weill-Marchesani Syndrome 1, Recessive

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

66
id Symbol AA change Variation ID SNP ID
1 ADAMTS10 p.Ala25Thr VAR_054439

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS10 NM_030957.3(ADAMTS10): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs121434357 GRCh37 Chromosome 19, 8665913: 8665913
2 ADAMTS10 NM_030957.3(ADAMTS10): c.1190+1G> A single nucleotide variant Pathogenic rs431825170 GRCh37 Chromosome 19, 8661190: 8661190
3 ADAMTS10 NM_030957.3(ADAMTS10): c.810+1G> A single nucleotide variant Pathogenic rs387906266 GRCh37 Chromosome 19, 8665811: 8665811
4 ADAMTS10 NM_030957.3(ADAMTS10): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs121434358 GRCh37 Chromosome 19, 8670523: 8670523
5 ADAMTS10 NM_030957.3(ADAMTS10): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic rs121434359 GRCh37 Chromosome 19, 8661959: 8661959
6 ADAMTS10 NM_030957.3(ADAMTS10): c.1553G> A (p.Gly518Asp) single nucleotide variant Pathogenic rs267606636 GRCh37 Chromosome 19, 8657681: 8657681
7 ADAMTS10 NM_030957.3(ADAMTS10): c.2098G> T (p.Gly700Cys) single nucleotide variant Pathogenic rs267606637 GRCh37 Chromosome 19, 8654186: 8654186
8 LTBP2 NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met) single nucleotide variant Pathogenic rs137854856 GRCh37 Chromosome 14, 74975430: 74975430

Expression for Weill-Marchesani Syndrome 1, Recessive

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

Pathways for Weill-Marchesani Syndrome 1, Recessive

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
2
Show member pathways
13.25 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
3
Show member pathways
12.62 FBN1 FBN2 FBN3 LTBP2
4
Show member pathways
12.32 FBN1 FBN2 FBN3 LTBP2
5
Show member pathways
11.9 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
6
Show member pathways
11.6 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
7
Show member pathways
11.49 FBN1 FBN2 FBN3 LTBP2
8
Show member pathways
10.98 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
9 10.96 FBN1 FBN2 FBN3 LTBP2

GO Terms for Weill-Marchesani Syndrome 1, Recessive

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
2 extracellular matrix GO:0031012 9.61 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4 FBN1
3 endoplasmic reticulum lumen GO:0005788 9.5 ADAMTS13 ADAMTSL4 FBN1
4 microfibril GO:0001527 9.43 ADAMTS10 FBN1 FBN2
5 proteinaceous extracellular matrix GO:0005578 9.32 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.56 ADAMTSL2 ADAMTSL4 FBN1 FBN2
2 extracellular matrix disassembly GO:0022617 9.43 FBN1 FBN2
3 proteolysis GO:0006508 9.43 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
4 camera-type eye development GO:0043010 9.4 FBN1 FBN2
5 protein O-linked fucosylation GO:0036066 9.37 ADAMTS13 ADAMTSL4
6 embryonic eye morphogenesis GO:0048048 9.32 FBN1 FBN2
7 sequestering of TGFbeta in extracellular matrix GO:0035583 9.16 FBN1 FBN2
8 regulation of cellular response to growth factor stimulus GO:0090287 8.8 FBN1 FBN2 FBN3

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

id Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.8 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2
2 calcium ion binding GO:0005509 9.77 ADAMTS13 FBN1 FBN2 FBN3 LTBP2
3 peptidase activity GO:0008233 9.63 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4
4 extracellular matrix structural constituent GO:0005201 9.5 FBN1 FBN2 FBN3
5 metallopeptidase activity GO:0008237 9.35 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2
6 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN1 FBN2
7 metalloendopeptidase activity GO:0004222 9.1 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS6 ADAMTSL2 ADAMTSL4

Sources for Weill-Marchesani Syndrome 1, Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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