MCID: WLL037
MIFTS: 29

Weill-Marchesani Syndrome 2

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

Aliases & Classifications for Weill-Marchesani Syndrome 2

MalaCards integrated aliases for Weill-Marchesani Syndrome 2:

Name: Weill-Marchesani Syndrome 2 57 75 29 6
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome 57 75
Weill-Marchesani Syndrome, Autosomal Dominant 57 73
Weill-Marchesani Syndrome 2, Dominant 57 13
Spherophakia-Brachymorphia Syndrome 57 75
Gemss Syndrome 59 73
Gemss 57 75
Wms2 57 75
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome; Gemss 57
Glaucoma-Ectopia-Microspherophakia-Stiff Joints-Short Stature Syndrome 59
Weill-Marchesani Syndrome, Autosomal Recessive 73
Autosomal Dominant Weill-Marchesani Syndrome 75
Mesodermal Dysmorphodystrophy, Congenital 57
Congenital Mesodermal Dysmorphodystrophy 75
Weill-Marchesani Syndrome, Type 2 40
Weill-Marchesani Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
see for a phenotypically similar autosomal recessive form


HPO:

32
weill-marchesani syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Weill-Marchesani Syndrome 2

OMIM : 57 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600. (608328)

MalaCards based summary : Weill-Marchesani Syndrome 2, also known as glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, is related to weill-marchesani syndrome and glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome 2 is FBN1 (Fibrillin 1). Affiliated tissues include eye, skin and cortex, and related phenotypes are glaucoma and ectopia lentis

UniProtKB/Swiss-Prot : 75 Weill-Marchesani syndrome 2: 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 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 11.6
2 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.6
3 weill-marchesani syndrome 1 11.4

Symptoms & Phenotypes for Weill-Marchesani Syndrome 2

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
ductus arteriosus
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 (74%)

Head And Neck Mouth:
narrow palate

Head And Neck Eyes:
blindness
severe myopia
shallow anterior chamber
glaucoma (in 80% of patients)
ectopia lentis (84%)
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 (18%)


Clinical features from OMIM:

608328

Human phenotypes related to Weill-Marchesani Syndrome 2:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
2 ectopia lentis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001083
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 narrow palate 32 HP:0000189
5 brachycephaly 32 HP:0000248
6 hypoplasia of the maxilla 32 HP:0000327
7 cataract 32 HP:0000518
8 shallow orbits 32 HP:0000586
9 shallow anterior chamber 32 HP:0000594
10 blindness 32 HP:0000618
11 misalignment of teeth 32 HP:0000692
12 broad ribs 32 HP:0000885
13 brachydactyly 32 HP:0001156
14 broad palm 32 HP:0001169
15 broad metacarpals 32 HP:0001230
16 intellectual disability, mild 32 HP:0001256
17 joint stiffness 32 HP:0001387
18 ventricular septal defect 32 HP:0001629
19 pulmonic stenosis 32 HP:0001642
20 patent ductus arteriosus 32 HP:0001643
21 aortic valve stenosis 32 HP:0001650
22 mitral regurgitation 32 HP:0001653
23 broad metatarsal 32 HP:0001783
24 scoliosis 32 HP:0002650
25 broad skull 32 HP:0002682
26 thin bony cortex 32 HP:0002753
27 lumbar hyperlordosis 32 HP:0002938
28 spinal canal stenosis 32 HP:0003416
29 proportionate short stature 32 HP:0003508
30 depressed nasal bridge 32 HP:0005280
31 abnormality of dental morphology 32 HP:0006482
32 broad phalanges of the hand 32 HP:0009768
33 high myopia 32 HP:0011003
34 microspherophakia 32 HP:0030961

UMLS symptoms related to Weill-Marchesani Syndrome 2:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 2

Search Clinical Trials , NIH Clinical Center for Weill-Marchesani Syndrome 2

Genetic Tests for Weill-Marchesani Syndrome 2

Genetic tests related to Weill-Marchesani Syndrome 2:

# Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 2 29 FBN1

Anatomical Context for Weill-Marchesani Syndrome 2

MalaCards organs/tissues related to Weill-Marchesani Syndrome 2:

41
Eye, Skin, Cortex

Publications for Weill-Marchesani Syndrome 2

Articles related to Weill-Marchesani Syndrome 2:

# Title Authors Year
1
Autosomal dominant Weill-Marchesani syndrome and glaucoma management. ( 16155673 )
2005
2
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. ( 12525539 )
2003

Variations for Weill-Marchesani Syndrome 2

ClinVar genetic disease variations for Weill-Marchesani Syndrome 2:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.5074_5097del24 (p.Arg1692_Tyr1699del) deletion Pathogenic rs1131692051 GRCh37 Chromosome 15, 48755406: 48755429
2 FBN1 NM_000138.4(FBN1): c.5074_5097del24 (p.Arg1692_Tyr1699del) deletion Pathogenic rs1131692051 GRCh38 Chromosome 15, 48463209: 48463232
3 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
4 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh38 Chromosome 15, 48537629: 48537629
5 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
6 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh38 Chromosome 15, 48468097: 48468097
7 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh37 Chromosome 15, 48758017: 48758017
8 FBN1 NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter) single nucleotide variant Pathogenic rs113871094 GRCh38 Chromosome 15, 48465820: 48465820
9 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
10 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh38 Chromosome 15, 48430736: 48430736
11 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
12 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh38 Chromosome 15, 48515382: 48515382
13 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
14 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752

Expression for Weill-Marchesani Syndrome 2

Search GEO for disease gene expression data for Weill-Marchesani Syndrome 2.

Pathways for Weill-Marchesani Syndrome 2

GO Terms for Weill-Marchesani Syndrome 2

Sources for Weill-Marchesani Syndrome 2

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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