Fraser Syndrome 2 (FRASRS2)

External Ids:

OMIM 57 617666 MedGen 42 C4540036 CN464191

MeSH 44 D058497 SNOMED-CT via HPO 69 32659003 204942005

OMIM : ⁵⁷ Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000. (617666)

MalaCards based summary : Fraser Syndrome 2, is also known as frasrs2. An important gene associated with Fraser Syndrome 2 is FREM2 (FRAS1 Related Extracellular Matrix Protein 2). Affiliated tissues include kidney and eye, and related phenotypes are renal hypoplasia and renal agenesis

UniProtKB/Swiss-Prot : ⁷⁵ Fraser syndrome 2: A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.

Clinical features from OMIM:

617666

Search Clinical Trials , NIH Clinical Center for Fraser Syndrome 2

Search GEO for disease gene expression data for Fraser Syndrome 2.