NDN gene related symptoms and diseases
All the information presented here about the NDN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NDN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Nasal speech | Uncommon - Between 30% and 50% cases |
| Spontaneous abortion | Uncommon - Between 30% and 50% cases |
| Narrow palpebral fissure | Uncommon - Between 30% and 50% cases |
| Bicuspid aortic valve | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NDN gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Sleep apnea
- Scrotal hypoplasia
- Infantile muscular hypotonia
- Poor suck
- Failure to thrive in infancy
- Increased body weight
- Precocious puberty
- Hyperinsulinemia
And 153 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NDN gene
Here you will find a list of rare diseases related to the NDN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRADER-WILLI SYNDROME; PWS
Alternate names
PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome
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.
Most common symptoms of PRADER-WILLI SYNDROME; PWS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about PRADER-WILLI SYNDROME; PWS
SOURCES: OMIM
PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15
Alternate names
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15 Is also known as upd(15)mat
More info about PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15
SOURCES: ORPHANET
Search interest in NDN
Potential gene panels for NDN gene
Prader-Willi syndrome (sequence analysis of NDN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NDN gene.
More info about this panel Portugal.
Prader-Willi Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics Prader-Willi Syndrome that also includes the following genes: SNRPN NDN
More info about this panel Germany.
Prader-Willi syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NDN gene.
More info about this panel Germany.
NDN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NDN gene.
More info about this panel United States.
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