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GJB3 gene related symptoms and diseases

All the information presented here about the GJB3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to GJB3 gene

Symptoms // Phenotype % Cases
Hearing impairment Uncommon - Between 30% and 50% cases
Neoplasm of the skin Rare - less than 30% cases
Palmoplantar keratoderma Rare - less than 30% cases
Abnormal blistering of the skin Rare - less than 30% cases
Epidermal acanthosis Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with GJB3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Rarely - Less than 30% cases

  • Cutaneous photosensitivity
  • Hypertrichosis
  • Thickened skin
  • Abnormality of the hair
  • Abnormality of the nail
  • Generalized hirsutism
  • Palmoplantar hyperkeratosis
  • Dry skin

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GJB3 gene

Here you will find a list of rare diseases related to the GJB3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

Description

An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.

Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Retinopathy
  • Vertigo


More info about DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

SOURCES: MESH OMIM

DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B

Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B

  • Hearing impairment
  • High-frequency hearing impairment


More info about DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B

SOURCES: MESH OMIM

ERYTHROKERATODERMIA VARIABILIS

Alternate names

ERYTHROKERATODERMIA VARIABILIS Is also known as psek, erythrokeratodermia variabilis et progressiva, ekvp, ekv, erythrokeratodermia variabilis, mendes da costa type, erythrokeratodermia figurata, congenital familial, in plaques, erythrokeratodermia, progressive symmetric, erythrokeratodermia variabilis with e

Description

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

Most common symptoms of ERYTHROKERATODERMIA VARIABILIS

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


More info about ERYTHROKERATODERMIA VARIABILIS

SOURCES: OMIM ORPHANET

NEUROPATHY WITH HEARING IMPAIRMENT

Description

This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.


More info about NEUROPATHY WITH HEARING IMPAIRMENT

SOURCES: ORPHANET

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

Alternate names

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna


More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

SOURCES: ORPHANET

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb


More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

SOURCES: ORPHANET



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