Prader-willi Syndrome; Pws

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

Genes related to Prader-willi Syndrome; Pws

NDN
SNRPN

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Prader-willi Syndrome; Pws

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Scoliosis
Growth delay
Nystagmus
Neoplasm
Failure to thrive

And another 156 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including adult onset, infantile onset, infantile onset, neonatal onset, and young adult onset .

Alternative names

Prader-willi Syndrome; Pws Is also known as prader-labhart-willi syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Prader-willi Syndrome; Pws Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Prader-Willi syndrome (sequence analysis of NDN gene). By CGC Genetics (Portugal). NDN Specificity 100 % Genes 50 %
Prader-Willi Syndrome. By Bioscientia GmbH Center for Human Genetics (Germany). SNRPN, NDN Specificity 100 % Genes 100 %
Prader-Willi syndrome. By Centogene AG - the Rare Disease Company (Germany). NDN Specificity 100 % Genes 50 %
NDN. By Fulgent Genetics Fulgent Genetics (United States). NDN Specificity 100 % Genes 50 %
Angelman syndrome. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SNRPN, UBE3A Specificity 50 % Genes 50 %
Prader-Willi syndrome. By Center for Human Genetics, Inc (United States). SNRPN Specificity 100 % Genes 50 %
Prader-Willi Syndrome. By UCSF Molecular Diagnostics Laboratory University of California, San Francisco (United States). SNRPN Specificity 100 % Genes 50 %
Test for Angelman Syndrome. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). SNRPN Specificity 100 % Genes 50 %

You can get up to 52 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6