MCID: WLL011
MIFTS: 24

Weill-Marchesani-Like Syndrome

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

Aliases & Classifications for Weill-Marchesani-Like Syndrome

MalaCards integrated aliases for Weill-Marchesani-Like Syndrome:

Name: Weill-Marchesani-Like Syndrome 53 71 28 13
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 55
15q26.3 Microdeletion Syndrome 55
Wmsl 53
Wmls 71

Characteristics:

Orphanet epidemiological data:

55
ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
weill-marchesani-like syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613195
Orphanet 55 ORPHA363992
MedGen 39 C2750787

Summaries for Weill-Marchesani-Like Syndrome

OMIM : 53 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-Like Syndrome, also known as ichthyosis-short stature-brachydactyly-microspherophakia syndrome, is related to weill-marchesani syndrome, and has symptoms including short stature, glaucoma and ectopia lentis. An important gene associated with Weill-Marchesani-Like Syndrome is ADAMTS17 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17). Affiliated tissues include skin and heart.

UniProtKB/Swiss-Prot : 71 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-Like Syndrome

Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 1 Weill-Marchesani Syndrome 2
Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome 3

Diseases related to Weill-Marchesani-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 9.3 ADAMTS17 LTBP2

Symptoms & Phenotypes for Weill-Marchesani-Like Syndrome

Symptoms via clinical synopsis from OMIM:

53
GrowthHeight:
short stature

HeadAndNeckEyes:
lenticular myopia
ectopia lentis
glaucoma
spherophakia


Clinical features from OMIM:

613195

Human phenotypes related to Weill-Marchesani-Like Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 glaucoma 31 HP:0000501
3 ectopia lentis 31 HP:0001083

Drugs & Therapeutics for Weill-Marchesani-Like Syndrome

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

Genetic Tests for Weill-Marchesani-Like Syndrome

Genetic tests related to Weill-Marchesani-Like Syndrome:

# Genetic test Affiliating Genes
1 Weill-Marchesani-Like Syndrome 28 ADAMTS17

Anatomical Context for Weill-Marchesani-Like Syndrome

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

38
Skin, Heart

Publications for Weill-Marchesani-Like Syndrome

Articles related to Weill-Marchesani-Like Syndrome:

# 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-Like Syndrome

ClinVar genetic disease variations for Weill-Marchesani-Like Syndrome:

6
# 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.760C> T (p.Gln254Ter) single nucleotide variant Pathogenic rs267606638 GRCh37 Chromosome 15, 100821463: 100821463
3 ADAMTS17 ADAMTS17, IVS12, G-A, +1 single nucleotide variant Pathogenic

Expression for Weill-Marchesani-Like Syndrome

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

Pathways for Weill-Marchesani-Like Syndrome

GO Terms for Weill-Marchesani-Like Syndrome

Cellular components related to Weill-Marchesani-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.62 ADAMTS17 LTBP2

Sources for Weill-Marchesani-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....