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SLC26A4-AS1 gene related symptoms and diseases

All the information presented here about the SLC26A4-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SLC26A4-AS1 gene

Symptoms // Phenotype % Cases
Vertigo Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Enlarged vestibular aqueduct Very Common - Between 80% and 100% cases
Goiter Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC26A4-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Abnormality of the inner ear
  • Cochlear malformation

  • Not very common - Between 30% and 50% cases

  • Intellectual disability
  • Thyroid carcinoma
  • Metabolic alkalosis
  • Hypoplasia of the cochlea
  • Tracheal stenosis
  • Compensated hypothyroidism

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC26A4-AS1 gene

Here you will find a list of rare diseases related to the SLC26A4-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PENDRED SYNDROME

Alternate names

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b, goiter-deafness syndrome, deafness with goiter, tdh2b, hypothyroidism, congenital, due to dyshormonogenesis, 2b, thyroid dyshormonogenesis 2b

Description

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

Most common symptoms of PENDRED SYNDROME

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


More info about PENDRED SYNDROME

SOURCES: ORPHANET MESH OMIM

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4

Alternate names

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4 Is also known as dva, neurosensory nonsyndromic recessive deafness 4, nsrd4, dilated vestibular aqueduct

Description

DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by Campbell et al., 2001 and Pryor et al., 2005). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients (Valvassori, 1983; Jackler and de la Cruz, 1989; Levenson et al., 1989; Arcand et al., 1991; Belenky et al., 1993; Okumura et al., 1995).

Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4

  • Hearing impairment
  • Sensorineural hearing impairment
  • Vertigo
  • Goiter
  • Mixed hearing impairment


More info about DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4

SOURCES: OMIM MESH



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