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]
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]
Missing:
Bilateral Congenital Profound Sensorineural Hearing Loss
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]
Missing:
Mutation in the KCNJ5 Gene
Long QT Syndrome
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]
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]
Long QT Syndrome 6
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]
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]
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]
Missing:
Bilateral Congenital Profound Sensorineural Hearing Loss
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]
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]
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]
Missing:
Mutation in the KCNJ5 Gene
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]
Missing:
Mutation in the KCNJ5 Gene