Result Filters
Chromosome locations
Clear
S
I
D
E
B
A
R
- Official
Symbol
- PWCRprovided by HGNC
- Official
Full Name
- Prader-Willi syndrome chromosome regionprovided by HGNC
- Primary source
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HGNC:HGNC:9710
- See related
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MIM:176270
- Gene type
- other
- Organism
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Homo sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
- Also known as
- PWS
- Summary
- A number sign (#) is used with this entry because of evidence that Prader-Willi syndrome (PWS) is in effect a contiguous gene syndrome resulting from deletion of the paternal copies of the imprinted SNRPN gene (MIM 182279), the necdin gene (MIM 602117), and possibly other genes within the chromosome region 15q11-q13. Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) [PubMed 18627066] provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (MIM 105830) region. See also the chromosome 15q11-q13 duplication syndrome (MIM 608636), which shows overlapping clinical features.[supplied by OMIM]
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