MCID: WLL040
MIFTS: 23

Weill-Marchesani Syndrome 4

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

Aliases & Classifications for Weill-Marchesani Syndrome 4

MalaCards integrated aliases for Weill-Marchesani Syndrome 4:

Name: Weill-Marchesani Syndrome 4 57
Weill-Marchesani-Like Syndrome 57 75 29 13 6
Wmsl 57 75
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 59
Weill-Marchesani 4 Syndrome, Recessive 57
Weill-Marchesani-Like Syndrome; Wmsl 57
Syndrome, Weill-Marchesani-Like 40
15q26.3 Microdeletion Syndrome 59
Wms4 57

Characteristics:

Orphanet epidemiological data:

59
ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
weill-marchesani syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613195
Orphanet 59 ORPHA363992
MedGen 42 C2750787

Summaries for Weill-Marchesani Syndrome 4

OMIM : 57 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, is also known as weill-marchesani-like syndrome. An important gene associated with Weill-Marchesani Syndrome 4 is ADAMTS17 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17). Affiliated tissues include skin and heart, and related phenotypes are glaucoma and ectopia lentis

UniProtKB/Swiss-Prot : 75 Weill-Marchesani-like syndrome: A disorder characterized by many of the key features of Weill- Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. However, the characteristic brachydactyly or decreased joint flexibility of Weill-Marchesani syndrome are absent.

Related Diseases for Weill-Marchesani Syndrome 4

Symptoms & Phenotypes for Weill-Marchesani Syndrome 4

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal Hands:
brachydactyly (in some patients)

Head And Neck Eyes:
lenticular myopia
ectopia lentis
iridodonesis
phacodonesis
shallow anterior chambers
more

Clinical features from OMIM:

613195

Human phenotypes related to Weill-Marchesani Syndrome 4:

32
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 ectopia lentis 32 HP:0001083
3 short stature 32 HP:0004322

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 29 ADAMTS17

Anatomical Context for Weill-Marchesani Syndrome 4

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

41
Skin, Heart

Publications for Weill-Marchesani Syndrome 4

Articles related to Weill-Marchesani Syndrome 4:

# Title Authors Year
1
Extended-depth spectral-domain optical coherence tomography imaging of the crystalline lens in Weill-Marchesani-like syndrome. ( 25938025 )
2014
2
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. ( 22539340 )
2012

Variations for Weill-Marchesani Syndrome 4

ClinVar genetic disease variations for Weill-Marchesani Syndrome 4:

6
(show top 50) (show all 421)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS17 NM_139057.3(ADAMTS17): c.2458dupG (p.Glu820Glyfs) duplication Pathogenic rs387906291 GRCh37 Chromosome 15, 100589195: 100589195
2 ADAMTS17 NM_139057.3(ADAMTS17): c.2458dupG (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 ADAMTS17, IVS12DS, G-A, +1 single nucleotide variant Pathogenic
6 ADAMTS17 NM_139057.3(ADAMTS17): c.2112C> T (p.Gly704=) single nucleotide variant Benign rs4965583 GRCh37 Chromosome 15, 100636586: 100636586
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.2040C> T (p.Ile680=) single nucleotide variant Uncertain significance rs150431950 GRCh38 Chromosome 15, 100096453: 100096453
9 ADAMTS17 NM_139057.3(ADAMTS17): c.2040C> T (p.Ile680=) single nucleotide variant Uncertain significance rs150431950 GRCh37 Chromosome 15, 100636658: 100636658
10 ADAMTS17 NM_139057.3(ADAMTS17): c.2004C> T (p.His668=) single nucleotide variant Uncertain significance rs200766799 GRCh38 Chromosome 15, 100109001: 100109001
11 ADAMTS17 NM_139057.3(ADAMTS17): c.2004C> T (p.His668=) single nucleotide variant Uncertain significance rs200766799 GRCh37 Chromosome 15, 100649206: 100649206
12 ADAMTS17 NM_139057.3(ADAMTS17): c.1923G> A (p.Gly641=) single nucleotide variant Uncertain significance rs749551110 GRCh38 Chromosome 15, 100109082: 100109082
13 ADAMTS17 NM_139057.3(ADAMTS17): c.1923G> A (p.Gly641=) single nucleotide variant Uncertain significance rs749551110 GRCh37 Chromosome 15, 100649287: 100649287
14 ADAMTS17 NM_139057.3(ADAMTS17): c.1889-14C> T single nucleotide variant Uncertain significance rs374520210 GRCh38 Chromosome 15, 100109130: 100109130
15 ADAMTS17 NM_139057.3(ADAMTS17): c.1889-14C> T single nucleotide variant Uncertain significance rs374520210 GRCh37 Chromosome 15, 100649335: 100649335
16 ADAMTS17 NM_139057.3(ADAMTS17): c.1720C> T (p.Pro574Ser) single nucleotide variant Uncertain significance rs200327256 GRCh37 Chromosome 15, 100672213: 100672213
17 ADAMTS17 NM_139057.3(ADAMTS17): c.1720C> T (p.Pro574Ser) single nucleotide variant Uncertain significance rs200327256 GRCh38 Chromosome 15, 100132008: 100132008
18 ADAMTS17 NM_139057.3(ADAMTS17): c.1682C> T (p.Thr561Met) single nucleotide variant Uncertain significance rs140998386 GRCh37 Chromosome 15, 100672251: 100672251
19 ADAMTS17 NM_139057.3(ADAMTS17): c.1682C> T (p.Thr561Met) single nucleotide variant Uncertain significance rs140998386 GRCh38 Chromosome 15, 100132046: 100132046
20 ADAMTS17 NM_139057.3(ADAMTS17): c.1431G> T (p.Gln477His) single nucleotide variant Uncertain significance rs765427198 GRCh37 Chromosome 15, 100692859: 100692859
21 ADAMTS17 NM_139057.3(ADAMTS17): c.1431G> T (p.Gln477His) single nucleotide variant Uncertain significance rs765427198 GRCh38 Chromosome 15, 100152654: 100152654
22 ADAMTS17 NM_139057.3(ADAMTS17): c.1353G> A (p.Thr451=) single nucleotide variant Uncertain significance rs143896591 GRCh37 Chromosome 15, 100692937: 100692937
23 ADAMTS17 NM_139057.3(ADAMTS17): c.1353G> A (p.Thr451=) single nucleotide variant Uncertain significance rs143896591 GRCh38 Chromosome 15, 100152732: 100152732
24 ADAMTS17 NM_139057.3(ADAMTS17): c.1323-12C> T single nucleotide variant Uncertain significance rs770627848 GRCh37 Chromosome 15, 100692979: 100692979
25 ADAMTS17 NM_139057.3(ADAMTS17): c.1323-12C> T single nucleotide variant Uncertain significance rs770627848 GRCh38 Chromosome 15, 100152774: 100152774
26 ADAMTS17 NM_139057.3(ADAMTS17): c.1302T> C (p.Asp434=) single nucleotide variant Uncertain significance rs559102316 GRCh37 Chromosome 15, 100695405: 100695405
27 ADAMTS17 NM_139057.3(ADAMTS17): c.1302T> C (p.Asp434=) single nucleotide variant Uncertain significance rs559102316 GRCh38 Chromosome 15, 100155200: 100155200
28 ADAMTS17 NM_139057.3(ADAMTS17): c.1062G> A (p.Pro354=) single nucleotide variant Uncertain significance rs145206425 GRCh37 Chromosome 15, 100794354: 100794354
29 ADAMTS17 NM_139057.3(ADAMTS17): c.1062G> A (p.Pro354=) single nucleotide variant Uncertain significance rs145206425 GRCh38 Chromosome 15, 100254149: 100254149
30 ADAMTS17 NM_139057.3(ADAMTS17): c.1053G> A (p.Lys351=) single nucleotide variant Benign rs4369638 GRCh38 Chromosome 15, 100254158: 100254158
31 ADAMTS17 NM_139057.3(ADAMTS17): c.1053G> A (p.Lys351=) single nucleotide variant Benign rs4369638 GRCh37 Chromosome 15, 100794363: 100794363
32 ADAMTS17 NM_139057.3(ADAMTS17): c.1008G> A (p.Val336=) single nucleotide variant Uncertain significance rs557358714 GRCh38 Chromosome 15, 100261502: 100261502
33 ADAMTS17 NM_139057.3(ADAMTS17): c.1008G> A (p.Val336=) single nucleotide variant Uncertain significance rs557358714 GRCh37 Chromosome 15, 100801707: 100801707
34 ADAMTS17 NM_139057.3(ADAMTS17): c.756C> T (p.Ala252=) single nucleotide variant Benign rs7496640 GRCh38 Chromosome 15, 100281262: 100281262
35 ADAMTS17 NM_139057.3(ADAMTS17): c.756C> T (p.Ala252=) single nucleotide variant Benign rs7496640 GRCh37 Chromosome 15, 100821467: 100821467
36 ADAMTS17 NM_139057.3(ADAMTS17): c.647C> T (p.Ser216Leu) single nucleotide variant Benign rs7496668 GRCh38 Chromosome 15, 100281371: 100281371
37 ADAMTS17 NM_139057.3(ADAMTS17): c.647C> T (p.Ser216Leu) single nucleotide variant Benign rs7496668 GRCh37 Chromosome 15, 100821576: 100821576
38 ADAMTS17 NM_139057.3(ADAMTS17): c.228C> G (p.Pro76=) single nucleotide variant Uncertain significance rs747636994 GRCh38 Chromosome 15, 100341261: 100341261
39 ADAMTS17 NM_139057.3(ADAMTS17): c.228C> G (p.Pro76=) single nucleotide variant Uncertain significance rs747636994 GRCh37 Chromosome 15, 100881466: 100881466
40 ADAMTS17 NM_139057.3(ADAMTS17): c.80-10C> G single nucleotide variant Uncertain significance rs886050983 GRCh37 Chromosome 15, 100881624: 100881624
41 ADAMTS17 NM_139057.3(ADAMTS17): c.80-10C> G single nucleotide variant Uncertain significance rs886050983 GRCh38 Chromosome 15, 100341419: 100341419
42 ADAMTS17 NM_139057.3(ADAMTS17): c.-4T> C single nucleotide variant Uncertain significance rs886050984 GRCh37 Chromosome 15, 100882108: 100882108
43 ADAMTS17 NM_139057.3(ADAMTS17): c.-4T> C single nucleotide variant Uncertain significance rs886050984 GRCh38 Chromosome 15, 100341903: 100341903
44 ADAMTS17 NM_139057.3(ADAMTS17): c.-22G> A single nucleotide variant Uncertain significance rs760846321 GRCh37 Chromosome 15, 100882126: 100882126
45 ADAMTS17 NM_139057.3(ADAMTS17): c.-22G> A single nucleotide variant Uncertain significance rs760846321 GRCh38 Chromosome 15, 100341921: 100341921
46 ADAMTS17 NM_139057.3(ADAMTS17): c.-62C> A single nucleotide variant Uncertain significance rs886050985 GRCh37 Chromosome 15, 100882166: 100882166
47 ADAMTS17 NM_139057.3(ADAMTS17): c.-62C> A single nucleotide variant Uncertain significance rs886050985 GRCh38 Chromosome 15, 100341961: 100341961
48 ADAMTS17 NM_139057.3(ADAMTS17): c.-69C> T single nucleotide variant Uncertain significance rs534119279 GRCh38 Chromosome 15, 100341968: 100341968
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.*2690G> A single nucleotide variant Uncertain significance rs566216613 GRCh38 Chromosome 15, 99971712: 99971712

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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