WMS4
MCID: WLL040
MIFTS: 25

Weill-Marchesani Syndrome 4 (WMS4)

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

Aliases & Classifications for Weill-Marchesani Syndrome 4

MalaCards integrated aliases for Weill-Marchesani Syndrome 4:

Name: Weill-Marchesani Syndrome 4 58 76
Weill-Marchesani-Like Syndrome 58 76 30 13 6
Wms4 58 76
Wmsl 58 76
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 60
Weill-Marchesani 4 Syndrome, Recessive 58
Weill-Marchesani-Like Syndrome; Wmsl 58
Syndrome, Weill-Marchesani-Like 41
15q26.3 Microdeletion Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
weill-marchesani syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Weill-Marchesani Syndrome 4

OMIM : 58 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014). For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (277600). (613195)

MalaCards based summary : Weill-Marchesani Syndrome 4, also known as weill-marchesani-like syndrome, is related to weill-marchesani syndrome 3. An important gene associated with Weill-Marchesani Syndrome 4 is ADAMTS17 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17). Affiliated tissues include skin and eye, and related phenotypes are short stature and myopia

UniProtKB/Swiss-Prot : 76 Weill-Marchesani syndrome 4: An autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients.

Related Diseases for Weill-Marchesani Syndrome 4

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

# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 3 10.4

Symptoms & Phenotypes for Weill-Marchesani Syndrome 4

Human phenotypes related to Weill-Marchesani Syndrome 4:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 myopia 33 HP:0000545
3 glaucoma 33 HP:0000501
4 ectopia lentis 33 HP:0001083
5 iridodonesis 33 HP:0100693
6 ocular hypertension 33 HP:0007906
7 phakodonesis 33 HP:0012629

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Skeletal Hands:
brachydactyly (in some patients)

Head And Neck Eyes:
glaucoma
ectopia lentis
iridodonesis
elevated intraocular pressure
phacodonesis
more

Clinical features from OMIM:

613195

Drugs & Therapeutics for Weill-Marchesani Syndrome 4

Search Clinical Trials , NIH Clinical Center for Weill-Marchesani Syndrome 4

Genetic Tests for Weill-Marchesani Syndrome 4

Genetic tests related to Weill-Marchesani Syndrome 4:

# Genetic test Affiliating Genes
1 Weill-Marchesani-Like Syndrome 30 ADAMTS17

Anatomical Context for Weill-Marchesani Syndrome 4

MalaCards organs/tissues related to Weill-Marchesani Syndrome 4:

42
Skin, Eye

Publications for Weill-Marchesani Syndrome 4

Articles related to Weill-Marchesani Syndrome 4:

# Title Authors Year
1
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. ( 24940034 )
2014
2
Extended-depth spectral-domain optical coherence tomography imaging of the crystalline lens in Weill-Marchesani-like syndrome. ( 25938025 )
2014
3
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. ( 22539340 )
2012
4
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. ( 22486325 )
2012
5
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. ( 19836009 )
2009

Variations for Weill-Marchesani Syndrome 4

ClinVar genetic disease variations for Weill-Marchesani Syndrome 4:

6 (show top 50) (show all 422)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS17 NM_139057.3(ADAMTS17): c.2458dup (p.Glu820Glyfs) duplication Pathogenic rs387906291 GRCh37 Chromosome 15, 100589195: 100589195
2 ADAMTS17 NM_139057.3(ADAMTS17): c.2458dup (p.Glu820Glyfs) duplication Pathogenic rs387906291 GRCh38 Chromosome 15, 100048990: 100048990
3 ADAMTS17 NM_139057.3(ADAMTS17): c.760C> T (p.Gln254Ter) single nucleotide variant Pathogenic rs267606638 GRCh37 Chromosome 15, 100821463: 100821463
4 ADAMTS17 NM_139057.3(ADAMTS17): c.760C> T (p.Gln254Ter) single nucleotide variant Pathogenic rs267606638 GRCh38 Chromosome 15, 100281258: 100281258
5 ADAMTS17 NM_139057.3(ADAMTS17): c.1721+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 15, 100672211: 100672211
6 ADAMTS17 NM_139057.3(ADAMTS17): c.1721+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 15, 100132006: 100132006
7 ADAMTS17 NM_139057.3(ADAMTS17): c.2112C> T (p.Gly704=) single nucleotide variant Benign rs4965583 GRCh38 Chromosome 15, 100096381: 100096381
8 ADAMTS17 NM_139057.3(ADAMTS17): c.2112C> T (p.Gly704=) single nucleotide variant Benign rs4965583 GRCh37 Chromosome 15, 100636586: 100636586
9 ADAMTS17 NM_139057.3(ADAMTS17): c.2040C> T (p.Ile680=) single nucleotide variant Uncertain significance rs150431950 GRCh38 Chromosome 15, 100096453: 100096453
10 ADAMTS17 NM_139057.3(ADAMTS17): c.2040C> T (p.Ile680=) single nucleotide variant Uncertain significance rs150431950 GRCh37 Chromosome 15, 100636658: 100636658
11 ADAMTS17 NM_139057.3(ADAMTS17): c.2004C> T (p.His668=) single nucleotide variant Uncertain significance rs200766799 GRCh38 Chromosome 15, 100109001: 100109001
12 ADAMTS17 NM_139057.3(ADAMTS17): c.2004C> T (p.His668=) single nucleotide variant Uncertain significance rs200766799 GRCh37 Chromosome 15, 100649206: 100649206
13 ADAMTS17 NM_139057.3(ADAMTS17): c.1923G> A (p.Gly641=) single nucleotide variant Uncertain significance rs749551110 GRCh38 Chromosome 15, 100109082: 100109082
14 ADAMTS17 NM_139057.3(ADAMTS17): c.1923G> A (p.Gly641=) single nucleotide variant Uncertain significance rs749551110 GRCh37 Chromosome 15, 100649287: 100649287
15 ADAMTS17 NM_139057.3(ADAMTS17): c.1889-14C> T single nucleotide variant Uncertain significance rs374520210 GRCh38 Chromosome 15, 100109130: 100109130
16 ADAMTS17 NM_139057.3(ADAMTS17): c.1889-14C> T single nucleotide variant Uncertain significance rs374520210 GRCh37 Chromosome 15, 100649335: 100649335
17 ADAMTS17 NM_139057.3(ADAMTS17): c.1720C> T (p.Pro574Ser) single nucleotide variant Uncertain significance rs200327256 GRCh37 Chromosome 15, 100672213: 100672213
18 ADAMTS17 NM_139057.3(ADAMTS17): c.1720C> T (p.Pro574Ser) single nucleotide variant Uncertain significance rs200327256 GRCh38 Chromosome 15, 100132008: 100132008
19 ADAMTS17 NM_139057.3(ADAMTS17): c.1682C> T (p.Thr561Met) single nucleotide variant Uncertain significance rs140998386 GRCh37 Chromosome 15, 100672251: 100672251
20 ADAMTS17 NM_139057.3(ADAMTS17): c.1682C> T (p.Thr561Met) single nucleotide variant Uncertain significance rs140998386 GRCh38 Chromosome 15, 100132046: 100132046
21 ADAMTS17 NM_139057.3(ADAMTS17): c.1431G> T (p.Gln477His) single nucleotide variant Uncertain significance rs765427198 GRCh37 Chromosome 15, 100692859: 100692859
22 ADAMTS17 NM_139057.3(ADAMTS17): c.1431G> T (p.Gln477His) single nucleotide variant Uncertain significance rs765427198 GRCh38 Chromosome 15, 100152654: 100152654
23 ADAMTS17 NM_139057.3(ADAMTS17): c.1353G> A (p.Thr451=) single nucleotide variant Uncertain significance rs143896591 GRCh37 Chromosome 15, 100692937: 100692937
24 ADAMTS17 NM_139057.3(ADAMTS17): c.1353G> A (p.Thr451=) single nucleotide variant Uncertain significance rs143896591 GRCh38 Chromosome 15, 100152732: 100152732
25 ADAMTS17 NM_139057.3(ADAMTS17): c.1323-12C> T single nucleotide variant Uncertain significance rs770627848 GRCh37 Chromosome 15, 100692979: 100692979
26 ADAMTS17 NM_139057.3(ADAMTS17): c.1323-12C> T single nucleotide variant Uncertain significance rs770627848 GRCh38 Chromosome 15, 100152774: 100152774
27 ADAMTS17 NM_139057.3(ADAMTS17): c.1302T> C (p.Asp434=) single nucleotide variant Uncertain significance rs559102316 GRCh37 Chromosome 15, 100695405: 100695405
28 ADAMTS17 NM_139057.3(ADAMTS17): c.1302T> C (p.Asp434=) single nucleotide variant Uncertain significance rs559102316 GRCh38 Chromosome 15, 100155200: 100155200
29 ADAMTS17 NM_139057.3(ADAMTS17): c.1062G> A (p.Pro354=) single nucleotide variant Uncertain significance rs145206425 GRCh37 Chromosome 15, 100794354: 100794354
30 ADAMTS17 NM_139057.3(ADAMTS17): c.1062G> A (p.Pro354=) single nucleotide variant Uncertain significance rs145206425 GRCh38 Chromosome 15, 100254149: 100254149
31 ADAMTS17 NM_139057.3(ADAMTS17): c.1053G> A (p.Lys351=) single nucleotide variant Benign rs4369638 GRCh38 Chromosome 15, 100254158: 100254158
32 ADAMTS17 NM_139057.3(ADAMTS17): c.1053G> A (p.Lys351=) single nucleotide variant Benign rs4369638 GRCh37 Chromosome 15, 100794363: 100794363
33 ADAMTS17 NM_139057.3(ADAMTS17): c.1008G> A (p.Val336=) single nucleotide variant Uncertain significance rs557358714 GRCh38 Chromosome 15, 100261502: 100261502
34 ADAMTS17 NM_139057.3(ADAMTS17): c.1008G> A (p.Val336=) single nucleotide variant Uncertain significance rs557358714 GRCh37 Chromosome 15, 100801707: 100801707
35 ADAMTS17 NM_139057.3(ADAMTS17): c.756C> T (p.Ala252=) single nucleotide variant Benign rs7496640 GRCh38 Chromosome 15, 100281262: 100281262
36 ADAMTS17 NM_139057.3(ADAMTS17): c.756C> T (p.Ala252=) single nucleotide variant Benign rs7496640 GRCh37 Chromosome 15, 100821467: 100821467
37 ADAMTS17 NM_139057.3(ADAMTS17): c.647C> T (p.Ser216Leu) single nucleotide variant Benign rs7496668 GRCh38 Chromosome 15, 100281371: 100281371
38 ADAMTS17 NM_139057.3(ADAMTS17): c.647C> T (p.Ser216Leu) single nucleotide variant Benign rs7496668 GRCh37 Chromosome 15, 100821576: 100821576
39 ADAMTS17 NM_139057.3(ADAMTS17): c.228C> G (p.Pro76=) single nucleotide variant Uncertain significance rs747636994 GRCh38 Chromosome 15, 100341261: 100341261
40 ADAMTS17 NM_139057.3(ADAMTS17): c.228C> G (p.Pro76=) single nucleotide variant Uncertain significance rs747636994 GRCh37 Chromosome 15, 100881466: 100881466
41 ADAMTS17 NM_139057.3(ADAMTS17): c.80-10C> G single nucleotide variant Uncertain significance rs886050983 GRCh37 Chromosome 15, 100881624: 100881624
42 ADAMTS17 NM_139057.3(ADAMTS17): c.80-10C> G single nucleotide variant Uncertain significance rs886050983 GRCh38 Chromosome 15, 100341419: 100341419
43 ADAMTS17 NM_139057.3(ADAMTS17): c.-4T> C single nucleotide variant Uncertain significance rs886050984 GRCh37 Chromosome 15, 100882108: 100882108
44 ADAMTS17 NM_139057.3(ADAMTS17): c.-4T> C single nucleotide variant Uncertain significance rs886050984 GRCh38 Chromosome 15, 100341903: 100341903
45 ADAMTS17 NM_139057.3(ADAMTS17): c.-22G> A single nucleotide variant Uncertain significance rs760846321 GRCh37 Chromosome 15, 100882126: 100882126
46 ADAMTS17 NM_139057.3(ADAMTS17): c.-22G> A single nucleotide variant Uncertain significance rs760846321 GRCh38 Chromosome 15, 100341921: 100341921
47 ADAMTS17 NM_139057.3(ADAMTS17): c.-62C> A single nucleotide variant Uncertain significance rs886050985 GRCh37 Chromosome 15, 100882166: 100882166
48 ADAMTS17 NM_139057.3(ADAMTS17): c.-62C> A single nucleotide variant Uncertain significance rs886050985 GRCh38 Chromosome 15, 100341961: 100341961
49 ADAMTS17 NM_139057.3(ADAMTS17): c.-69C> T single nucleotide variant Uncertain significance rs534119279 GRCh37 Chromosome 15, 100882173: 100882173
50 ADAMTS17 NM_139057.3(ADAMTS17): c.-69C> T single nucleotide variant Uncertain significance rs534119279 GRCh38 Chromosome 15, 100341968: 100341968

Expression for Weill-Marchesani Syndrome 4

Search GEO for disease gene expression data for Weill-Marchesani Syndrome 4.

Pathways for Weill-Marchesani Syndrome 4

GO Terms for Weill-Marchesani Syndrome 4

Sources for Weill-Marchesani Syndrome 4

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
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
Content
Loading form....