WMLS
MCID: WLL011
MIFTS: 25

Weill-Marchesani-Like Syndrome (WMLS) malady

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

Aliases & Classifications for Weill-Marchesani-Like Syndrome

Aliases & Descriptions for Weill-Marchesani-Like Syndrome:

Name: Weill-Marchesani-Like Syndrome 54 24 66 29 13
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 56
15q26.3 Microdeletion Syndrome 56
Wmls 66

Characteristics:

Orphanet epidemiological data:

56
ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
weill-marchesani-like syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613195
Orphanet 56 ORPHA363992
MedGen 40 C2750787

Summaries for Weill-Marchesani-Like Syndrome

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Weill-Marchesani-Like Syndrome, also known as ichthyosis-short stature-brachydactyly-microspherophakia syndrome, is related to aneruptive fever and hemolytic uremic syndrome, atypical 5, 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.

Description from OMIM: 613195

Related Diseases for Weill-Marchesani-Like Syndrome

Symptoms & Phenotypes for Weill-Marchesani-Like Syndrome

Symptoms by clinical synopsis from OMIM:

613195

Clinical features from OMIM:

613195

Human phenotypes related to Weill-Marchesani-Like Syndrome:

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

id Genetic test Affiliating Genes
1 Weill-Marchesani-Like Syndrome 29 24 ADAMTS17

Anatomical Context for Weill-Marchesani-Like Syndrome

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

39
Skin

Publications for Weill-Marchesani-Like Syndrome

Articles related to Weill-Marchesani-Like Syndrome:

id 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
id 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:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.96 ADAMTS17 LTBP2
2 extracellular matrix GO:0031012 8.62 ADAMTS17 LTBP2

Sources for Weill-Marchesani-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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