WMS4
MCID: WLL040
MIFTS: 33

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 56 73 29 6
Weill-Marchesani-Like Syndrome 56 73 13
Wms4 56 73
Wmsl 56 73
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 58
Weill-Marchesani 4 Syndrome, Recessive 56
Weill-Marchesani-Like Syndrome; Wmsl 56
Syndrome, Weill-Marchesani-Like 39
15q26.3 Microdeletion Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
weill-marchesani syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 613195
OMIM Phenotypic Series 56 PS277600
Orphanet 58 ORPHA363992
MedGen 41 C2750787

Summaries for Weill-Marchesani Syndrome 4

OMIM : 56 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 marfan syndrome and pectus excavatum. An important gene associated with Weill-Marchesani Syndrome 4 is ADAMTS17 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17). Affiliated tissues include skin, heart and eye, and related phenotypes are brachydactyly and short stature

UniProtKB/Swiss-Prot : 73 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 marfan syndrome 10.4
2 pectus excavatum 10.4
3 orthostatic intolerance 10.4
4 weill-marchesani syndrome 3 10.4
5 isolated ectopia lentis 10.4
6 acute closed-angle glaucoma 10.4
7 refractive error 10.4
8 adamtsl4-related eye disorders 10.4
9 weill-marchesani syndrome 10.3
10 brachydactyly 10.3
11 ichthyosis, congenital, autosomal recessive 9 9.4 CERS3 ADAMTS17
12 autosomal recessive congenital ichthyosis 9.2 CERS3 ADAMTS17

Graphical network of the top 20 diseases related to Weill-Marchesani Syndrome 4:



Diseases related to Weill-Marchesani Syndrome 4

Symptoms & Phenotypes for Weill-Marchesani Syndrome 4

Human phenotypes related to Weill-Marchesani Syndrome 4:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 very rare (1%) HP:0001156
2 short stature 31 HP:0004322
3 myopia 31 HP:0000545
4 glaucoma 31 HP:0000501
5 ectopia lentis 31 HP:0001083
6 iridodonesis 31 HP:0100693
7 ocular hypertension 31 HP:0007906
8 phakodonesis 31 HP:0012629

Symptoms via clinical synopsis from OMIM:

56
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 Syndrome 4 29 ADAMTS17

Anatomical Context for Weill-Marchesani Syndrome 4

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

40
Skin, Heart, Eye, Bone

Publications for Weill-Marchesani Syndrome 4

Articles related to Weill-Marchesani Syndrome 4:

# Title Authors PMID Year
1
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. 56 6
24940034 2014
2
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. 56 6
22486325 2012
3
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. 56 6
19836009 2009
4
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. 56
23754960 2013
5
Weill-Marchesani Syndrome 6
20301293 2007
6
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. 61
31726086 2019
7
Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. 61
15478742 2004
8
Molecular identification of white morphotype strains of endophytic fungi from Pinus tabulaeformis. 61
12951794 2003

Variations for Weill-Marchesani Syndrome 4

ClinVar genetic disease variations for Weill-Marchesani Syndrome 4:

6 (show top 50) (show all 211) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTS17 NM_139057.4(ADAMTS17):c.2456-1dupduplication Pathogenic 3153 rs387906291 15:100589194-100589195 15:100048989-100048990
2 ADAMTS17 NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter)SNV Pathogenic 3154 rs267606638 15:100821463-100821463 15:100281258-100281258
3 ADAMTS17 NM_139057.4(ADAMTS17):c.1721+1G>ASNV Pathogenic 3155 rs749116256 15:100672211-100672211 15:100132006-100132006
4 ADAMTS17 NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)deletion Pathogenic 492940 rs1555501030 15:100821571-100821571 15:100281366-100281366
5 ADAMTS17 NM_139057.4(ADAMTS17):c.873+1G>TSNV Pathogenic 492941 rs1160509052 15:100802556-100802556 15:100262351-100262351
6 ADAMTS17 NM_139057.4(ADAMTS17):c.*1014_*1019deldeletion Conflicting interpretations of pathogenicity 315201 rs11277519 15:100513588-100513593 15:99973383-99973388
7 ADAMTS17 NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=)SNV Conflicting interpretations of pathogenicity 315293 rs143896591 15:100692937-100692937 15:100152732-100152732
8 ADAMTS17 NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=)SNV Conflicting interpretations of pathogenicity 315261 rs149373184 15:100537686-100537686 15:99997481-99997481
9 ADAMTS17 NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro)SNV Conflicting interpretations of pathogenicity 315298 rs140930935 15:100695419-100695419 15:100155214-100155214
10 ADAMTS17 NM_139057.4(ADAMTS17):c.1767T>C (p.His589=)SNV Conflicting interpretations of pathogenicity 315284 rs148939974 15:100657173-100657173 15:100116968-100116968
11 ADAMTS17 NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=)SNV Conflicting interpretations of pathogenicity 315247 rs144817994 15:100514610-100514610 15:99974405-99974405
12 ADAMTS17 NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=)SNV Conflicting interpretations of pathogenicity 315323 rs886050982 15:100881526-100881526 15:100341321-100341321
13 ADAMTS17 NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=)SNV Conflicting interpretations of pathogenicity 315281 rs34558152 15:100657065-100657065 15:100116860-100116860
14 ADAMTS17 NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp)SNV Uncertain significance 315282 rs200745301 15:100657100-100657100 15:100116895-100116895
15 ADAMTS17 NM_139057.4(ADAMTS17):c.790-6T>CSNV Uncertain significance 315308 rs886050977 15:100802646-100802646 15:100262441-100262441
16 ADAMTS17 NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=)SNV Uncertain significance 315310 rs377212581 15:100821446-100821446 15:100281241-100281241
17 ADAMTS17 NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly)SNV Uncertain significance 315319 rs886050979 15:100881306-100881306 15:100341101-100341101
18 ADAMTS17 NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp)SNV Uncertain significance 315266 rs61757475 15:100589063-100589063 15:100048858-100048858
19 ADAMTS17 NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=)SNV Uncertain significance 315271 rs139059770 15:100636589-100636589 15:100096384-100096384
20 ADAMTS17 NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=)SNV Uncertain significance 315267 rs61752831 15:100589181-100589181 15:100048976-100048976
21 ADAMTS17 NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=)SNV Uncertain significance 315272 rs200809221 15:100636631-100636631 15:100096426-100096426
22 ADAMTS17 NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=)SNV Uncertain significance 315280 rs145594305 15:100657053-100657053 15:100116848-100116848
23 ADAMTS17 NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=)SNV Uncertain significance 315288 rs767074176 15:100672346-100672346 15:100132141-100132141
24 ADAMTS17 NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu)SNV Uncertain significance 315296 rs147286623 15:100695390-100695390 15:100155185-100155185
25 ADAMTS17 NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=)SNV Uncertain significance 315292 rs149252796 15:100692892-100692892 15:100152687-100152687
26 ADAMTS17 NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=)SNV Uncertain significance 315299 rs371229459 15:100695459-100695459 15:100155254-100155254
27 ADAMTS17 NM_139057.4(ADAMTS17):c.3127+12C>TSNV Uncertain significance 315254 rs200475413 15:100516238-100516238 15:99976033-99976033
28 ADAMTS17 NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=)SNV Uncertain significance 315268 rs146286415 15:100591868-100591868 15:100051663-100051663
29 ADAMTS17 NM_139057.4(ADAMTS17):c.*671C>TSNV Uncertain significance 315218 rs76681073 15:100513936-100513936 15:99973731-99973731
30 ADAMTS17 NM_139057.4(ADAMTS17):c.2592-10C>TSNV Uncertain significance 315264 rs751012843 15:100537804-100537804 15:99997599-99997599
31 ADAMTS17 NM_139057.4(ADAMTS17):c.*465G>ASNV Uncertain significance 315227 rs886050967 15:100514142-100514142 15:99973937-99973937
32 ADAMTS17 NM_139057.4(ADAMTS17):c.*464C>TSNV Uncertain significance 315228 rs148258011 15:100514143-100514143 15:99973938-99973938
33 ADAMTS17 NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=)SNV Uncertain significance 315289 rs767074176 15:100672346-100672346 15:100132141-100132141
34 ADAMTS17 NM_139057.4(ADAMTS17):c.*1348dupduplication Uncertain significance 315188 rs545574106 15:100513258-100513259 15:99973053-99973054
35 ADAMTS17 NM_139057.4(ADAMTS17):c.*1315C>TSNV Uncertain significance 315189 rs185582795 15:100513292-100513292 15:99973087-99973087
36 ADAMTS17 NM_139057.4(ADAMTS17):c.*1244C>GSNV Uncertain significance 315191 rs561561821 15:100513363-100513363 15:99973158-99973158
37 ADAMTS17 NM_139057.4(ADAMTS17):c.*1130C>TSNV Uncertain significance 315195 rs377343119 15:100513477-100513477 15:99973272-99973272
38 ADAMTS17 NM_139057.4(ADAMTS17):c.*1065G>ASNV Uncertain significance 315198 rs886050959 15:100513542-100513542 15:99973337-99973337
39 ADAMTS17 NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg)SNV Uncertain significance 315300 rs886050975 15:100695499-100695499 15:100155294-100155294
40 ADAMTS17 NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser)SNV Uncertain significance 315301 rs755587669 15:100739559-100739559 15:100199354-100199354
41 ADAMTS17 NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=)SNV Uncertain significance 315307 rs886050976 15:100802563-100802563 15:100262358-100262358
42 ADAMTS17 NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys)SNV Uncertain significance 315312 rs200673902 15:100821472-100821472 15:100281267-100281267
43 ADAMTS17 NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=)SNV Uncertain significance 315313 rs780909666 15:100821514-100821514 15:100281309-100281309
44 ADAMTS17 NM_139057.4(ADAMTS17):c.616+7C>TSNV Uncertain significance 315315 rs886050978 15:100871087-100871087 15:100330882-100330882
45 ADAMTS17 NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys)SNV Uncertain significance 315316 rs754980579 15:100871158-100871158 15:100330953-100330953
46 ADAMTS17 NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg)SNV Uncertain significance 315317 rs761591792 15:100871190-100871190 15:100330985-100330985
47 ADAMTS17 NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly)SNV Uncertain significance 315320 rs886050980 15:100881461-100881461 15:100341256-100341256
48 ADAMTS17 NM_139057.4(ADAMTS17):c.*2598T>CSNV Uncertain significance 315134 rs754478048 15:100512009-100512009 15:99971804-99971804
49 ADAMTS17 NM_139057.4(ADAMTS17):c.*2511A>GSNV Uncertain significance 315140 rs145561763 15:100512096-100512096 15:99971891-99971891
50 ADAMTS17 NM_139057.4(ADAMTS17):c.*2479C>GSNV Uncertain significance 315141 rs540696412 15:100512128-100512128 15:99971923-99971923

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

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