Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia (DFNA1)

Alias:

Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome

Konigsmark Syndrome

Dfna1

Autosomal Dominant Nonsyndromic Deafness 1

Deafness, Autosomal Dominant 1

Lfhl1

Autosomal Dominant Deafness 1, with or Without Thrombocytopenia

Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1

Hereditary Low-Frequency Sensorineural Hearing Loss

Autosomal Dominant Nonsyndromic Hearing Loss 1

Hereditary Low Frequency Hearing Loss 1

Hereditary Low-Frequency Hearing Loss

Deafness, Autosomal Dominant, Type 1

Autosomal Dominant Deafness 1

Lfsnhl1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia, also known as diaph1-related sensorineural hearing loss-thrombocytopenia syndrome, is related to deafness, autosomal dominant 6 and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia is DIAPH1 (Diaphanous Related Formin 1), and among its related pathways/superpathways are Integrin Pathway and Sweet Taste Signaling. Affiliated tissues include brain, and related phenotypes are thrombocytopenia and progressive sensorineural hearing impairment

Related ID：

MALACARDS：DFN384

OMIM：124900

MESH：D006319