MCID: WLL027
MIFTS: 32

Weill-Marchesani Syndrome 1, Recessive

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

Aliases & Classifications for Weill-Marchesani Syndrome 1, Recessive

MalaCards integrated aliases for Weill-Marchesani Syndrome 1, Recessive:

Name: Weill-Marchesani Syndrome 1, Recessive 54 13
Weill-Marchesani Syndrome 1 71 29
Weill-Marchesani Syndrome, Autosomal Recessive 69
Autosomal Recessive Weill-Marchesani Syndrome 71
Weill-Marchesani Syndrome, Autosomal Dominant 69
Congenital Mesodermal Dysmorphodystrophy 71
Spherophakia-Brachymorphia Syndrome 71
Weill-Marchesani Syndrome 69
Wms1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
see for a phenotypically similar autosomal dominant form


HPO:

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


Classifications:



Summaries for Weill-Marchesani Syndrome 1, Recessive

UniProtKB/Swiss-Prot : 71 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.

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 scoliosis, brachydactyly and depressed nasal bridge. An important gene associated with Weill-Marchesani Syndrome 1, Recessive is ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10). Affiliated tissues include eye, skin and cortex.

OMIM : 54
Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). (277600)

Related Diseases for Weill-Marchesani Syndrome 1, Recessive

Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 3, Recessive Weill-Marchesani Syndrome 2, Dominant
Weill-Marchesani-Like Syndrome 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:

id Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 11.5
2 weill-marchesani syndrome 2, dominant 11.2
3 endemic typhus 9.5 ADAMTS10 LTBP2
4 c3 deficiency 9.2 ADAMTS10 LTBP2

Symptoms & Phenotypes for Weill-Marchesani Syndrome 1, Recessive

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
increased lumbar lordosis
narrow spinal canal

Head And Neck- Nose:
depressed nasal bridge

Head And Neck- Face:
maxillary hypoplasia

Cardiovascular- Heart:
ventricular septal defect
mitral valve insufficiency
pulmonary valve stenosis
aortic valve stenosis
ductus arteriosus
more
Head And Neck- Teeth:
malaligned teeth
malformed teeth

Skeletal- Limbs:
thin cortices

Chest- Ribs Sternum Clavicles And Scapulae:
wide ribs

Skeletal- Skull:
broad skull
small shallow orbits

Skin Nails & Hair- Skin:
thick skin (66%)

Skeletal- Hands:
brachydactyly
broad hands
broad phalanges
broad metacarpals

Head And Neck- Mouth:
narrow palate

Head And Neck- Eyes:
blindness
severe myopia
shallow anterior chamber
glaucoma (75%)
ectopia lentis (64%)
more
Head And Neck- Head:
brachycephaly

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

Growth- Other:
muscular build

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

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, Recessive:

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

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


joint stiffness

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, Skin, 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:

71
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

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 proteinaceous extracellular matrix GO:0005578 8.96 ADAMTS10 LTBP2
2 extracellular matrix GO:0031012 8.62 ADAMTS10 LTBP2

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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