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

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Aliases & Descriptions for Weill-Marchesani-Like Syndrome:

Name: Weill-Marchesani-Like Syndrome 52 24 70 27 12
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 54
 
15q26.3 Microdeletion Syndrome 54
Wmls 70

Characteristics:

Orphanet epidemiological data:

54
ichthyosis-short stature-brachydactyly-microspherophakia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
weill-marchesani-like syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613195
Orphanet54 ORPHA363992
MedGen37 C2750787

Summaries for Weill-Marchesani-Like Syndrome

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UniProtKB/Swiss-Prot:70 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 glaucoma, ectopia lentis and short stature. 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:52 613195

Related Diseases for Weill-Marchesani-Like Syndrome

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Symptoms & Phenotypes for Weill-Marchesani-Like Syndrome

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Symptoms by clinical synopsis from OMIM:

613195

Clinical features from OMIM:

613195

Human phenotypes related to Weill-Marchesani-Like Syndrome:

 64
id Description HPO Frequency HPO Source Accession
1 glaucoma64 HP:0000501
2 ectopia lentis64 HP:0001083
3 short stature64 HP:0004322

Drugs & Therapeutics for Weill-Marchesani-Like Syndrome

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Interventional clinical trials:

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

Genetic Tests for Weill-Marchesani-Like Syndrome

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Genetic tests related to Weill-Marchesani-Like Syndrome:

id Genetic test Affiliating Genes
1 Weill-Marchesani-Like Syndrome27 24 ADAMTS17

Anatomical Context for Weill-Marchesani-Like Syndrome

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

36
Skin

Publications for Weill-Marchesani-Like Syndrome

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Articles related to Weill-Marchesani-Like Syndrome:

idTitleAuthorsYear
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

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADAMTS17NM_ 139057.3(ADAMTS17): c.2458dupG (p.Glu820Glyfs)duplicationPathogenicrs387906291GRCh37Chr 15, 100589195: 100589195
2ADAMTS17NM_ 139057.3(ADAMTS17): c.760C> T (p.Gln254Ter)SNVPathogenicrs267606638GRCh37Chr 15, 100821463: 100821463
3ADAMTS17ADAMTS17, IVS12, G-A, +1SNVPathogenic

Expression for genes affiliated with Weill-Marchesani-Like Syndrome

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

Pathways for genes affiliated with Weill-Marchesani-Like Syndrome

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GO Terms for genes affiliated with Weill-Marchesani-Like Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:003101210.0ADAMTS17, LTBP2
2proteinaceous extracellular matrixGO:00055789.3ADAMTS17, LTBP2

Sources for Weill-Marchesani-Like Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet