MCID: WLL011
MIFTS: 23

Weill-Marchesani-Like Syndrome 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 51 24 69 26 12
Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 53
 
15q26.3 Microdeletion Syndrome 53
Wmls 69

Characteristics:

Orphanet epidemiological data:

53
ichthyosis-short stature-brachydactyly-microspherophakia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
weill-marchesani-like syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 613195
Orphanet53 ORPHA363992
MedGen36 C2750787

Summaries for Weill-Marchesani-Like Syndrome

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UniProtKB/Swiss-Prot:69 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 endemic typhus and webb-dattani syndrome, 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:51 613195

Related Diseases for Weill-Marchesani-Like Syndrome

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Symptoms 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:

 63
id Description HPO Frequency HPO Source Accession
1 glaucoma63 HP:0000501
2 ectopia lentis63 HP:0001083
3 short stature63 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 Syndrome26 24 ADAMTS17

Anatomical Context for Weill-Marchesani-Like Syndrome

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

35
Skin

Animal Models for Weill-Marchesani-Like Syndrome or affiliated genes

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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, +1SNVPathogenicChr na, -1: -1

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
1proteinaceous extracellular matrixGO:00055789.3ADAMTS17, LTBP2

Sources for Weill-Marchesani-Like Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet