autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Findings
No curated finding names autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.
Definition from the Mondo Disease Ontology (MONDO:0012726), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
22 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 14 of 14 reported patients
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Retinal arteriolar tortuosityHPOHP:0001136
- 14 of 14 reported patients
- Renal insufficiencyHPOHP:0000083
- 5 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Retinal vascular tortuosityHPOHP:0012841
- Very frequent (80% to 99% of cases)
- Dilatation of the cerebral arteryHPOHP:0004944
Show the remaining 10
- ArrhythmiaHPOHP:0011675
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Occasional (5% to 29% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Occasional (5% to 29% of cases)
- Decreased glomerular filtration rateHPOHP:0012213
- Occasional (5% to 29% of cases)
- Ocular anterior segment dysgenesisHPOHP:0007700
- Occasional (5% to 29% of cases)
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.
- COL4A1HGNC:2202
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- Also called
- angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsHANACHANAC syndromehereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome