autosomal dominant nonsyndromic hearing loss 1
Findings
No curated finding names autosomal dominant nonsyndromic hearing loss 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007424), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MacrothrombocytopeniaHPOHP:0040185
- 8 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 8 of 8 reported patients
- ThrombocytopeniaHPOHP:0001873
- 8 of 8 reported patients
- MenorrhagiaHPOHP:0000132
- 1 of 8 reported patients
- Post-partum hemorrhageHPOHP:0011891
- 1 of 8 reported patients
- Impaired platelet aggregationHPOHP:0003540
- 0 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DIAPH1HGNC:2876
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: autosomal dominant nonsyndromic hearing loss 1
- Also called
- Konigsmark syndrome