Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness (BARTS4A)

Alias:

Sensorineural Deafness with Mild Renal Dysfunction

Bartter Disease Type 4a

Bartter Syndrome, Type 4a

Barts4a

Bsnd

Bartter Syndrome, Neonatal, with Sensorineural Deafness

Bartter Syndrome 4a, Neonatal, with Sensorineural Deafness

Infantile Bartter Syndrome with Sensorineural Deafness

Neonatal Bartter Syndrome with Sensorineural Deafness

Hypokalemic Alkalosis with Hypercalciuria Antenatal 4

Hyperprostanglandin E Syndrome 4

Bartter Syndrome Type 4a

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Gene & Mutation

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References Literature

Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness, also known as sensorineural deafness with mild renal dysfunction, is related to bartter syndrome, type 4b, neonatal, with sensorineural deafness and hypokalemia, and has symptoms including polyuria An important gene associated with Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness is BSND (Barttin CLCNK Type Accessory Subunit Beta), and among its related pathways/superpathways are Ion channel transport and Immune response Lectin induced complement pathway. Affiliated tissues include kidney and salivary gland, and related phenotypes are sensorineural hearing impairment and polydipsia

Related ID：

MALACARDS：BRT053

OMIM：602522

MESH：D001477