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Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.
Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment), Macrothrombocytopenia, and Low platelet count (thrombocytopenia); and sometimes findings: Menorrhagia and Post-partum hemorrhage. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 2 | Impaired platelet aggregation, Low platelet count (thrombocytopenia) |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
DIAPH1 encodes diaphanous related formin 1 (1,272 aa). Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Highest expression in Cells EBV-transformed lymphocytes (99.7 TPM) and Muscle Skeletal (95.6 TPM).
Autosomal dominant nonsyndromic hearing loss 1 is associated with mutations in the DIAPH1 gene on chromosome 5.
The DIAPH1 protein participates in ZMYM2(1-1059)-p-4Y-FLT3(594-993) fusion, ZMYM2(1-1057)-p-5Y-FLT3(586-993) fusion, and ZMYM2(1-1059)-FLT3(594-993) fusion pathways.
DIAPH1 is classified as a druggable target (Kinase category) with score 0.0.
Genetic testing for DIAPH1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 1 has been reported in the published literature.
Phenotype severity distribution: 3 always present features.
No clinical trials have been registered for autosomal dominant nonsyndromic hearing loss 1.
20 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 1. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (35%), and Diagnostic / Biomarker (10%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 45% |
Laboratory research | 7 | 35% |
Testing and diagnosis research | 2 | 10% |
Research summaries | 1 | 5% |
Disease patterns and progression | 1 | 5% |
Wang J (2026). [PMID: 41923037](https://pubmed.ncbi.nlm.nih.gov/41923037/). *BMC Med Genomics*. [Case Report / Case Series]
Kim JA (2026). [PMID: 41619855](https://pubmed.ncbi.nlm.nih.gov/41619855/). *Mol Cells*. [Diagnostic / Biomarker]
Peng LT (2026). [PMID: 41351289](https://pubmed.ncbi.nlm.nih.gov/41351289/). *J Clin Lab Anal*. [Case Report / Case Series]
DeSollar B (2026). [PMID: 41979979](https://pubmed.ncbi.nlm.nih.gov/41979979/). *JMIR Bioinform Biotechnol*. [Case Report / Case Series]
Yang C (2026). [PMID: 41822198](https://pubmed.ncbi.nlm.nih.gov/41822198/). *Exp Ther Med*. [Case Report / Case Series]
Murillo-Cuesta S (2025). [PMID: 41046290](https://pubmed.ncbi.nlm.nih.gov/41046290/). *J Neuroinflammation*. [Review / Meta-Analysis]
Otsuka S (2025). [PMID: 39858604](https://pubmed.ncbi.nlm.nih.gov/39858604/). *Genes (Basel)*. [Basic Science / Preclinical]
Wu KL (2025). [PMID: 40413265](https://pubmed.ncbi.nlm.nih.gov/40413265/). *Sci Rep*. [Basic Science / Preclinical]
Mutai H (2025). [PMID: 40295800](https://pubmed.ncbi.nlm.nih.gov/40295800/). *Sci Rep*. [Basic Science / Preclinical]
Feng Q (2025). [PMID: 39542281](https://pubmed.ncbi.nlm.nih.gov/39542281/). *Gene*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:53 AM UTC
Online Mendelian Inheritance in Man
AI-curated news mentioning autosomal dominant nonsyndromic hearing loss 1
Updated Aug 19, 2026
A new study identifies a family with autosomal dominant thrombocytopenia linked to a heterozygous variant in the CYCS gene. This research adds to the existing literature on the genetic underpinnings of this rare blood disorder.
A study characterizes a family with autosomal dominant thrombocytopenia linked to the CYCS p.Arg92Gly variant, providing insights into clinical features and antiplatelet tolerance. This research adds to the understanding of genetic factors influencing platelet levels.