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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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



More info about PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION

SOURCES: ORPHANET

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


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

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

Prader-Willi syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NDN gene.

More info about this panel

NDN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NDN gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like P2RY11 DSG4 IRF5 GPC6 NFKBIA MAP3K7

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more