WMS1
MCID: WLL036
MIFTS: 32

Weill-Marchesani Syndrome 1 (WMS1)

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

Aliases & Classifications for Weill-Marchesani Syndrome 1

MalaCards integrated aliases for Weill-Marchesani Syndrome 1:

Name: Weill-Marchesani Syndrome 1 58 76 30 6
Weill-Marchesani Syndrome, Autosomal Recessive 58 74
Weill-Marchesani Syndrome 1, Recessive 58 13
Spherophakia-Brachymorphia Syndrome 58 76
Wms1 58 76
Weill-Marchesani Syndrome, Autosomal Dominant 74
Autosomal Recessive Weill-Marchesani Syndrome 76
Weill-Marchesani Syndrome, Type 1, Recessive 41
Mesodermal Dysmorphodystrophy, Congenital 58
Congenital Mesodermal Dysmorphodystrophy 76
Weill-Marchesani Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
see for a phenotypically similar autosomal dominant form


HPO:

33
weill-marchesani syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Weill-Marchesani Syndrome 1

OMIM : 58 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). (277600)

MalaCards based summary : Weill-Marchesani Syndrome 1, also known as weill-marchesani syndrome, autosomal recessive, is related to weill-marchesani syndrome and weill-marchesani syndrome 2, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome 1 is ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10). Affiliated tissues include eye, skin and cortex, and related phenotypes are joint stiffness and short stature

UniProtKB/Swiss-Prot : 76 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

Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 1 Weill-Marchesani Syndrome 2
Weill-Marchesani Syndrome 4 Weill-Marchesani Syndrome 3

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

# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 31.6 ADAMTS10 LTBP2
2 weill-marchesani syndrome 2 11.5
3 weill-marchesani syndrome 4 11.2
4 isolated microspherophakia 9.6 ADAMTS10 LTBP2

Symptoms & Phenotypes for Weill-Marchesani Syndrome 1

Human phenotypes related to Weill-Marchesani Syndrome 1:

33 (show all 34)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 33 very rare (1%) HP:0001387
2 short stature 33 very rare (1%) HP:0004322
3 intellectual disability, mild 33 very rare (1%) HP:0001256
4 glaucoma 33 very rare (1%) HP:0000501
5 ectopia lentis 33 very rare (1%) HP:0001083
6 brachydactyly 33 very rare (1%) HP:0001156
7 pulmonic stenosis 33 very rare (1%) HP:0001642
8 aortic valve stenosis 33 very rare (1%) HP:0001650
9 microspherophakia 33 very rare (1%) HP:0030961
10 high myopia 33 very rare (1%) HP:0011003
11 scoliosis 33 HP:0002650
12 narrow palate 33 HP:0000189
13 cataract 33 HP:0000518
14 depressed nasal bridge 33 HP:0005280
15 blindness 33 HP:0000618
16 brachycephaly 33 HP:0000248
17 broad ribs 33 HP:0000885
18 patent ductus arteriosus 33 HP:0001643
19 mitral regurgitation 33 HP:0001653
20 hypoplasia of the maxilla 33 HP:0000327
21 ventricular septal defect 33 HP:0001629
22 spinal canal stenosis 33 HP:0003416
23 abnormality of dental morphology 33 HP:0006482
24 misalignment of teeth 33 HP:0000692
25 broad palm 33 HP:0001169
26 lumbar hyperlordosis 33 HP:0002938
27 broad metatarsal 33 HP:0001783
28 proportionate short stature 33 HP:0003508
29 thin bony cortex 33 HP:0002753
30 shallow orbits 33 HP:0000586
31 broad metacarpals 33 HP:0001230
32 broad skull 33 HP:0002682
33 shallow anterior chamber 33 HP:0000594
34 broad phalanges of the hand 33 HP:0009768

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
increased lumbar lordosis
narrow spinal canal

Head And Neck Nose:
depressed nasal bridge

Head And Neck Head:
brachycephaly

Cardiovascular Heart:
ventricular septal defect
aortic valve stenosis
pulmonary valve stenosis
mitral valve insufficiency
cardiac anomalies (39%)
more
Skeletal Skull:
broad skull
small shallow orbits

Head And Neck Teeth:
malaligned teeth
malformed teeth

Chest Ribs Sternum Clavicles And Scapulae:
wide ribs

Skeletal:
joint stiffness (hands, shoulder, elbows, knees, and ankles)
joint limitations

Skin Nails Hair Skin:
thick skin (66%)

Head And Neck Mouth:
narrow palate

Head And Neck Eyes:
blindness
severe myopia
glaucoma (75%)
ectopia lentis (64%)
microspherophakia (small, spherical lens) (94%)
more
Skeletal Hands:
brachydactyly
broad metacarpals
broad phalanges
broad hands

Head And Neck Face:
maxillary hypoplasia

Growth Height:
short stature, proportionate
adult male height 142-169 cm
adult female height 130-157 cm

Skeletal Limbs:
thin cortices

Growth Other:
muscular build

Skeletal Feet:
broad metatarsals

Neurologic Central Nervous System:
mental retardation, mild (11%)

Clinical features from OMIM:

277600

UMLS symptoms related to Weill-Marchesani Syndrome 1:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 1

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

Genetic Tests for Weill-Marchesani Syndrome 1

Genetic tests related to Weill-Marchesani Syndrome 1:

# Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 1 30 ADAMTS10

Anatomical Context for Weill-Marchesani Syndrome 1

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

42
Eye, Skin, Cortex

Publications for Weill-Marchesani Syndrome 1

Articles related to Weill-Marchesani Syndrome 1:

# Title Authors Year
1
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. ( 19836009 )
2009
2
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. ( 18567016 )
2008
3
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ( 15368195 )
2004
4
THE SPHEROPHAKIA-BRACHYMORPHIA SYNDROME: TWO CASES AMONG FIVE BROTHERS. ( 14265222 )
1965
5
The spherophakia-brachymorphia syndrome. ( 13275173 )
1956
6
Possible genetic carriers in the spherophakia-brachymorphia syndrome. ( 13275462 )
1955

Variations for Weill-Marchesani Syndrome 1

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

76
# Symbol AA change Variation ID SNP ID
1 ADAMTS10 p.Ala25Thr VAR_054439

ClinVar genetic disease variations for Weill-Marchesani Syndrome 1:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS10 NM_030957.3(ADAMTS10): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs121434358 GRCh37 Chromosome 19, 8670523: 8670523
2 ADAMTS10 NM_030957.3(ADAMTS10): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs121434358 GRCh38 Chromosome 19, 8605638: 8605638
3 ADAMTS10 NM_030957.3(ADAMTS10): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs121434357 GRCh37 Chromosome 19, 8665913: 8665913
4 ADAMTS10 NM_030957.3(ADAMTS10): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs121434357 GRCh38 Chromosome 19, 8601029: 8601029
5 ADAMTS10 NM_030957.3(ADAMTS10): c.1190+1G> A single nucleotide variant Pathogenic rs431825170 GRCh37 Chromosome 19, 8661190: 8661190
6 ADAMTS10 NM_030957.3(ADAMTS10): c.1190+1G> A single nucleotide variant Pathogenic rs431825170 GRCh38 Chromosome 19, 8596306: 8596306
7 ADAMTS10 NM_030957.3(ADAMTS10): c.810+1G> A single nucleotide variant Pathogenic rs387906266 GRCh37 Chromosome 19, 8665811: 8665811
8 ADAMTS10 NM_030957.3(ADAMTS10): c.810+1G> A single nucleotide variant Pathogenic rs387906266 GRCh38 Chromosome 19, 8600927: 8600927
9 ADAMTS10 NM_030957.3(ADAMTS10): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic rs121434359 GRCh37 Chromosome 19, 8661959: 8661959
10 ADAMTS10 NM_030957.3(ADAMTS10): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic rs121434359 GRCh38 Chromosome 19, 8597075: 8597075
11 ADAMTS10 NM_030957.3(ADAMTS10): c.1553G> A (p.Gly518Asp) single nucleotide variant Pathogenic rs267606636 GRCh37 Chromosome 19, 8657681: 8657681
12 ADAMTS10 NM_030957.3(ADAMTS10): c.1553G> A (p.Gly518Asp) single nucleotide variant Pathogenic rs267606636 GRCh38 Chromosome 19, 8592797: 8592797
13 ADAMTS10 NM_030957.3(ADAMTS10): c.2098G> T (p.Gly700Cys) single nucleotide variant Pathogenic rs267606637 GRCh37 Chromosome 19, 8654186: 8654186
14 ADAMTS10 NM_030957.3(ADAMTS10): c.2098G> T (p.Gly700Cys) single nucleotide variant Pathogenic rs267606637 GRCh38 Chromosome 19, 8589302: 8589302
15 LTBP2 NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met) single nucleotide variant Pathogenic rs137854856 GRCh37 Chromosome 14, 74975430: 74975430
16 LTBP2 NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met) single nucleotide variant Pathogenic rs137854856 GRCh38 Chromosome 14, 74508727: 74508727
17 ADAMTS10 NM_030957.3(ADAMTS10): c.3303T> G (p.His1101Gln) single nucleotide variant Benign rs7252299 GRCh38 Chromosome 19, 8580902: 8580902
18 ADAMTS10 NM_030957.3(ADAMTS10): c.3303T> G (p.His1101Gln) single nucleotide variant Benign rs7252299 GRCh37 Chromosome 19, 8645786: 8645786
19 ADAMTS10 NM_030957.3(ADAMTS10): c.1920G> A (p.Ser640=) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 8654450: 8654450
20 ADAMTS10 NM_030957.3(ADAMTS10): c.1920G> A (p.Ser640=) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 8589566: 8589566
21 ADAMTS10 NM_030957.3(ADAMTS10): c.641C> G (p.Pro214Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 8665981: 8665981
22 ADAMTS10 NM_030957.3(ADAMTS10): c.641C> G (p.Pro214Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 8601097: 8601097
23 ADAMTS10 NM_030957.3(ADAMTS10): c.350C> T (p.Ala117Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 8669982: 8669982
24 ADAMTS10 NM_030957.3(ADAMTS10): c.350C> T (p.Ala117Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 8605097: 8605097

Expression for Weill-Marchesani Syndrome 1

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

Pathways for Weill-Marchesani Syndrome 1

GO Terms for Weill-Marchesani Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.32 LTBP2

Sources for Weill-Marchesani Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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