RERE gene related symptoms and diseases

All the information presented here about the RERE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RERE gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with RERE gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Optic atrophy
  • Downslanted palpebral fissures
  • Frontal bossing
  • Ventricular septal defect
  • Anteverted nares
  • Cryptorchidism
  • Behavioral abnormality
  • Hypospadias

And 245 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RERE gene

Here you will find a list of rare diseases related to the RERE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


1P36 DELETION SYNDROME


Alternate names

1P36 DELETION SYNDROME Is also known as del(1)(p36), monosomy 1p36, monosomy 1pter, deletion 1pter, deletion 1p36, monosomy 1p36 syndrome, subtelomeric 1p36 deletion

Description

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

Most common symptoms of 1P36 DELETION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about 1P36 DELETION SYNDROME

SOURCES: ORPHANET OMIM MESH

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH


Description

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Most common symptoms of NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

SOURCES: OMIM

RERE-RELATED NEURODEVELOPMENTAL SYNDROME



More info about RERE-RELATED NEURODEVELOPMENTAL SYNDROME

SOURCES: ORPHANET




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