FRASRS2
MCID: FRS016
MIFTS: 17
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Fraser Syndrome 2 (FRASRS2)
Categories:
Eye diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Fraser Syndrome 2:Characteristics:Classifications: |
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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617666Human phenotypes related to Fraser Syndrome 2:32
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MalaCards organs/tissues related to Fraser Syndrome 2:41
Kidney,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Fraser Syndrome 2:75
ClinVar genetic disease variations for Fraser Syndrome 2:6
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Search
GEO
for disease gene expression data for Fraser Syndrome 2.
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