Bilateral Congenital Profound Sensorineural Hearing Loss & Mutation in the KCNJ5 Gene: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Bilateral Congenital Profound Sensorineural Hearing Loss, Mutation in the KCNJ5 Gene,

Negated

None

Unsure

None

Possible Causes

Long QT Syndrome 13

The Jervell and Lange-Nielsen syndrome is an autosomal recessive form of LQTS and is characterized by congenital profound bilateral sensorineural hearing loss and long QT [medicinenet.com]

[…] in the KCNJ5 gene on chromosome 11q24.3. [informatics.jax.org]

In some cases, LQTS may be associated with congenital profound bilateral sensorineural hearing loss, known as Jervell and Lange-Nielsen syndrome (JLNS). [mayomedicallaboratories.com]

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Familial Hyperaldosteronism Type 1

[…] in the KCNJ5 gene. [en.wikipedia.org]

Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. [ghr.nlm.nih.gov]

Zennaro MC, Jeunemaitre X: Mutations in KCNJ5 gene cause hyperaldosteronism. Circ Res 2011;108:1417-1418. [karger.com]

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Tietz Syndrome

From Wikidata Jump to navigation Jump to search monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like [wikidata.org]

Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal. [orpha.net]

profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on [wikidata.org]

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Long QT Syndrome

Clinical sensitivity by gene KCNQ1 40% KCNH2 35% SCN5A 5% Studies show that up to 5% of mutation-negative LQTS individuals will have a large deletion or duplication in one [invitae.com]

In some cases, LQTS may be associated with congenital profound bilateral sensorineural hearing loss, known as Jervell and Lange-Nielsen syndrome (JLNS). [mayomedicallaboratories.com]

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Long QT Syndrome 6

Clinical sensitivity by gene KCNQ1 40% KCNH2 35% SCN5A 5% Studies show that up to 5% of mutation-negative LQTS individuals will have a large deletion or duplication in one [invitae.com]

In some cases, LQTS may be associated with congenital profound bilateral sensorineural hearing loss, known as Jervell and Lange-Nielsen syndrome (JLNS). [mayomedicallaboratories.com]

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Usher Syndrome Type 1H

Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. [ncbi.nlm.nih.gov]

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Hyperaldosteronism

Mutations in the KCNJ5 gene, which encodes the inward rectifier K( ) channel 4 (G protein-activated inward rectifier K( ) channel 4, Kir3.4), cause familial hyperaldosteronism [ncbi.nlm.nih.gov]

Abstract As a major cause of aldosterone producing adenomas, numerous gain-of-function mutations in the KCNJ5 gene (encoding the K( ) channel subunit GIRK4) have been identified [ncbi.nlm.nih.gov]

Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. [ghr.nlm.nih.gov]

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Long QT Syndrome 10

In some cases, LQTS may be associated with congenital profound bilateral sensorineural hearing loss, known as Jervell and Lange-Nielsen syndrome (JLNS). [mayomedicallaboratories.com]

LQT-8: CACNA1C gene; LQT-9: CAV3 gene; LQT-10: SCN4B gene; LQT-11: AKAP9 gene; LQT-12 gene SNTA1; LQT-13: KCNJ5 gene. [ivami.com]

Clinical sensitivity by gene KCNQ1 40% KCNH2 35% SCN5A 5% Studies show that up to 5% of mutation-negative LQTS individuals will have a large deletion or duplication in one [invitae.com]

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Usher Syndrome Type 1K

Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. [ncbi.nlm.nih.gov]

Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with [orpha.net]

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Long QT Syndrome 8

Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and LQTc usually greater than 500 msec. [ncbi.nlm.nih.gov]

LQTS13 G protein-coupled, inwardly rectifying potassium channel subunit (Kir3.4) is encoded by the KCNJ5 gene. [frontiersin.org]

Mutations in this gene may increase the late sodium current I Na. [17] LQT13 600734 KCNJ5 Also known as GIRK4, encodes G protein-sensitive inwardly rectifying potassium channels [en.wikipedia.org]

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Conn Syndrome

The findings that 40% of patients with an aldosterone-producing adenoma (APA) of the adrenal have somatic gain-of-function mutations in a single gene, KCNJ5, and that this [ncbi.nlm.nih.gov]

Familial hyperaldosteronism (FH) type 3: Mutations in the gene encoding the inwardly rectifying potassium channel Kir3.4 (KCNJ5 gene). [statpearls.com]

[…] in a single gene (KCNJ5). [en.wikipedia.org]

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Atrial Arrhythmia

Fifteen mutations of gain and loss of function have been found in the genes of K channels, including mutations in KCNE1-5, KCNH2, KCNJ5 or ABCC9 among others. [en.wikipedia.org]

Six variations in genes of Na channels that include SCN1-4B, SCN5A and SCN10A have also been found. [en.wikipedia.org]

This finding led to the mapping of different loci such as 10q22-24, 6q14-16 and 11p15-5.3 and discover mutations associated with the loci. [en.wikipedia.org]

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Supraventricular Tachycardia

Fifteen mutations of gain and loss of function have been found in the genes of K channels, including mutations in KCNE1-5, KCNH2, KCNJ5 or ABCC9 among others. [en.wikipedia.org]

Six variations in genes of Na channels that include SCN1-4B, SCN5A and SCN10A have also been found. [en.wikipedia.org]

This finding led to the mapping of different loci such as 10q22-24, 6q14-16 and 11p15-5.3 and discover mutations associated with the loci. [en.wikipedia.org]

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Atrial Fibrillation

Fifteen mutations of gain and loss of function have been found in the genes of K channels, including mutations in KCNE1-5, KCNH2, KCNJ5 or ABCC9 among others. [en.wikipedia.org]

Six variations in genes of Na channels that include SCN1-4B, SCN5A and SCN10A have also been found. [en.wikipedia.org]

This finding led to the mapping of different loci such as 10q22-24, 6q14-16 and 11p15-5.3 and discover mutations associated with the loci. [en.wikipedia.org]

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Adenoma

Effect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells. [hyper.ahajournals.org]

The KCNJ5 T158A mutation was introduced into human adrenocortical cell lines (HAC15 cells) using lentiviral delivery. [ncbi.nlm.nih.gov]

1.2-fold ( P Discussion Our study is the first to report somatic mutations in the KCNJ5 gene and several other genes in Chinese patients with APA. [hyper.ahajournals.org]

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Microtia

[…] canals, and bilateral profound sensorineural hearing loss (HL). [ncbi.nlm.nih.gov]

OBJECTIVES: This article presents the first report of cochlear implantation in a patient with congenital aural atresia, microtia, dysplastic cochlea and internal auditory [ncbi.nlm.nih.gov]

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Congenital Deafness

hearing loss ranges from mild to profound hearing loss. [wvdhhr.org]

In syndromic hearing loss, the auditory pathology may be conductive and/or sensorineural, unilateral or bilateral, symmetrical or asymmetrical, and progressive or stable. [wvdhhr.org]

[…] other risk factors. 38 Profound and permanent congenital hearing loss is estimated to occur in approximately 1 in 1000 births. 39, 40 Clinical Manifestations The spectrum of congenital [wvdhhr.org]

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Adrenogenital Syndrome

Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. [ncbi.nlm.nih.gov]

Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (HALD2; 605635) is caused by mutation in the CLCN2 gene (600570) on chromosome 3q27 [ncbi.nlm.nih.gov]

Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13. [ncbi.nlm.nih.gov]

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Usher Syndrome Type 1D

Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. [ncbi.nlm.nih.gov]

Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with [orpha.net]

Usher syndrome type I should be suspected in individuals with: Congenital (i.e., prelingual) profound bilateral sensorineural hearing loss No significant vestibular responses [centogene.com]

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Usher Syndrome Type 1

profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function. [ltd.aruplab.com]

Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with [orpha.net]

Clinical diagnosis for type 1 is based on findings of bilateral sensorineural hearing loss symmetric, congenital and profound. [cags.org.ae]

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Torsade-De-Pointes Syndrome with Short Coupling Interval

[…] is caused by mutation in the KCNJ5 gene ( 600734 ). [genome.jp]

( 608256 ), LQT11 ( 611820 ) is caused by mutation in the AKAP9 gene ( 604001 ), LQT12 ( 612955 ) is caused by mutation in the SNTA1 gene ( 601017 ), and LQT13 ( 613485 ) [genome.jp]

Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester [genome.jp]

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Deafness

Mumps (Epidemic parotitis) may result in profound sensorineural hearing loss (90 dB or more), unilateral (one ear) or bilateral (both ears). congenital rubella (also called [en.wikipedia.org]

Measles may cause auditory nerve damage but usually gives rise to a chronic middle ear problem giving rise to a mixed hearing loss. [en.wikipedia.org]

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Tricho-Retino-Dento-Digital Syndrome

Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Ears]; Bilateral congenital profound sensorineural hearing loss; [Mouth]; Diastema; [Teeth]; Oligodontia Ehlers-Danlos [findzebra.com]

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Acute Atrial Infarction

Fifteen mutations of gain and loss of function have been found in the genes of K channels, including mutations in KCNE1 -5, KCNH2, KCNJ5 or ABCC9 among others. [en.wikipedia.org]

Six variations in genes of Na channels that include SNC1 -4B, SNC5A and SNC10A have also been found. [en.wikipedia.org]

This finding led to the mapping of different loci such as 10q22-24, 6q14-16 and 11p15-5.3 and discover mutations associated with the loci. [en.wikipedia.org]

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Familial Hyperaldosteronism Type 3

Etiology FH-III is due to heterozygous missense mutations of the KCNJ5 gene (11q24), encoding the G- protein -activated inward rectifier potassium channel GIRK-4. [rarediseases.info.nih.gov]

Zennaro MC, Jeunemaitre X: Mutations in KCNJ5 gene cause hyperaldosteronism. Circ Res 2011;108:1417-1418. [karger.com]

These mutations result in loss of channel selectivity, membrane depolarization of the zona glomerulosa cells of the adrenal cortex, opening of voltage-activated calcium channels [rarediseases.info.nih.gov]

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Non-Syndromic Ocular Stickler Syndrome Type 1

[…] type 1 patients have congenital bilateral profound hearing loss and absent vestibular function d) type 2 patients have moderate losses and normal vestibular function. e) [juniperpublishers.com]

Ushers syndrome a) Usher's syndrome has a prevalence of 3.5 per 100,000 populations) b) Sensorineural hearing loss and retinitis pigmentosa characterize the syndrome. c) Usher [juniperpublishers.com]

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Adult-Onset Autosomal Recessive Cerebellar Ataxia

bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. [refsumdisease.org]

(See also the GeneReview: Retinitis Pigmentosa Overview.) 2b(iii) Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type 1 is characterized by a congenital [refsumdisease.org]

Usher syndrome type 2 is characterized by congenital, bilateral, sensorineural hearing loss predominantly in the higher frequencies that ranges from mild to severe; normal [refsumdisease.org]

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Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

Mutations in a related gene encoding a similar potassium ion channel, KCNJ5, have been identified in some of those with type 2 Andersen–Tawil, but in many cases a genetic [en.wikipedia.org]

[…] in the gene KCNJ5 have been implicated in one family with Andersen‐Tawil syndrome, and then subsequently found in 1/21 gene negative Andersen‐Tawil syndrome, but this will [doi.org]

Type 1 Andersen-Tawil, accounting for about 60% of cases, is caused by mutations in the KCNJ2 gene. [en.wikipedia.org]

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Tachyarrhythmia

Fifteen mutations of gain and loss of function have been found in the genes of K channels, including mutations in KCNE1-5, KCNH2, KCNJ5 or ABCC9 among others. [en.wikipedia.org]

Six variations in genes of Na channels that include SNC1-4B, SNC5A and SNC10A have also been found. [en.wikipedia.org]

This finding led to the mapping of different loci such as 10q22-24, 6q14-16 and 11p15-5.3 and discover mutations associated with the loci. [en.wikipedia.org]

Show info

Hereditary Hyperekplexia

Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized [amp.pharm.mssm.edu]

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