Weill-Marchesani-Like Syndrome malady
Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare diseases, Eye diseases, Bone diseases
Aliases & Descriptions for Weill-Marchesani-Like Syndrome:
Orphanet epidemiological data:52
ichthyosis-short stature-brachydactyly-microspherophakia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Skin diseases, Eye diseases, Bone diseases
UniProtKB/Swiss-Prot:68 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:50 613195
Diseases in the Weill-Marchesani Syndrome family:
Diseases related to Weill-Marchesani-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
MalaCards organs/tissues related to Weill-Marchesani-Like Syndrome:34
Articles related to Weill-Marchesani-Like Syndrome:
Clinvar genetic disease variations for Weill-Marchesani-Like Syndrome:5
Search GEO for disease gene expression data for Weill-Marchesani-Like Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet