MCID: WLL036
MIFTS: 31

Weill-Marchesani Syndrome 1

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

Aliases & Classifications for Weill-Marchesani Syndrome 1

MalaCards integrated aliases for Weill-Marchesani Syndrome 1:

Name: Weill-Marchesani Syndrome 1 57 75 29 6
Weill-Marchesani Syndrome, Autosomal Recessive 57 73
Weill-Marchesani Syndrome 1, Recessive 57 13
Spherophakia-Brachymorphia Syndrome 57 75
Wms1 57 75
Weill-Marchesani Syndrome, Autosomal Dominant 73
Autosomal Recessive Weill-Marchesani Syndrome 75
Weill-Marchesani Syndrome, Type 1, Recessive 40
Mesodermal Dysmorphodystrophy, Congenital 57
Congenital Mesodermal Dysmorphodystrophy 75
Weill-Marchesani Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
see for a phenotypically similar autosomal dominant form


HPO:

32
weill-marchesani syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Weill-Marchesani Syndrome 1

OMIM : 57 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, heart and skin, and related phenotypes are narrow palate and brachycephaly

UniProtKB/Swiss-Prot : 75 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 30.5 ADAMTS10 LTBP2
2 weill-marchesani syndrome 2 11.3
3 weill-marchesani syndrome 4 11.0
4 primary congenital glaucoma 9.2 ADAMTS10 LTBP2

Symptoms & Phenotypes for Weill-Marchesani Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Weill-Marchesani Syndrome 1:

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

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 29 ADAMTS10

Anatomical Context for Weill-Marchesani Syndrome 1

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

41
Eye, Heart, Skin, Cortex

Publications for Weill-Marchesani Syndrome 1

Articles related to Weill-Marchesani Syndrome 1:

# Title Authors Year
1
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. ( 15368195 )
2004
2
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. ( 11149617 )
2000

Variations for Weill-Marchesani Syndrome 1

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

75
# 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 22)
# 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.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs121434357 GRCh38 Chromosome 19, 8601029: 8601029
3 ADAMTS10 NM_030957.3(ADAMTS10): c.1190+1G> A single nucleotide variant Pathogenic rs431825170 GRCh37 Chromosome 19, 8661190: 8661190
4 ADAMTS10 NM_030957.3(ADAMTS10): c.1190+1G> A single nucleotide variant Pathogenic rs431825170 GRCh38 Chromosome 19, 8596306: 8596306
5 ADAMTS10 NM_030957.3(ADAMTS10): c.810+1G> A single nucleotide variant Pathogenic rs387906266 GRCh37 Chromosome 19, 8665811: 8665811
6 ADAMTS10 NM_030957.3(ADAMTS10): c.810+1G> A single nucleotide variant Pathogenic rs387906266 GRCh38 Chromosome 19, 8600927: 8600927
7 ADAMTS10 NM_030957.3(ADAMTS10): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs121434358 GRCh37 Chromosome 19, 8670523: 8670523
8 ADAMTS10 NM_030957.3(ADAMTS10): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs121434358 GRCh38 Chromosome 19, 8605638: 8605638
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.2521T> C (p.Cys841Arg) single nucleotide variant no interpretation for the single variant rs886041104 GRCh37 Chromosome 19, 8651237: 8651237
18 ADAMTS10 NM_030957.3(ADAMTS10): c.2521T> C (p.Cys841Arg) single nucleotide variant no interpretation for the single variant rs886041104 GRCh38 Chromosome 19, 8586353: 8586353
19 ADAMTS10 NM_030957.3(ADAMTS10): c.2350C> T (p.Gln784Ter) single nucleotide variant no interpretation for the single variant rs886041105 GRCh37 Chromosome 19, 8651495: 8651495
20 ADAMTS10 NM_030957.3(ADAMTS10): c.2350C> T (p.Gln784Ter) single nucleotide variant no interpretation for the single variant rs886041105 GRCh38 Chromosome 19, 8586611: 8586611
21 ADAMTS10 NM_030957.3(ADAMTS10): c.3303T> G (p.His1101Gln) single nucleotide variant Benign rs7252299 GRCh38 Chromosome 19, 8580902: 8580902
22 ADAMTS10 NM_030957.3(ADAMTS10): c.3303T> G (p.His1101Gln) single nucleotide variant Benign rs7252299 GRCh37 Chromosome 19, 8645786: 8645786

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 8.62 ADAMTS10 LTBP2

Sources for Weill-Marchesani Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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