paternal uniparental disomy of chromosome 1
MONDO:0016650Mondo
Findings
No curated finding names paternal uniparental disomy of chromosome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Definition from the Mondo Disease Ontology (MONDO:0016650), read 2026-09-29. CC BY 4.0.
Features
29 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.
- Abnormal blistering of the skinHPOHP:0008066
- Frequent (30% to 79% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
- Abnormal retinal morphology on macular OCTHPOHP:0030612
- Frequent (30% to 79% of cases)
- AnhidrosisHPOHP:0000970
- Frequent (30% to 79% of cases)
- Brain atrophyHPOHP:0012444
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- DyschromatopsiaHPOHP:0007641
- Frequent (30% to 79% of cases)
- Enlarged kidneyHPOHP:0000105
- Frequent (30% to 79% of cases)
- Episodic hemolytic anemiaHPOHP:0004802
- Frequent (30% to 79% of cases)
- HypercalcemiaHPOHP:0003072
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
Show the remaining 17
- Increased blood urea nitrogenHPOHP:0003138
- Frequent (30% to 79% of cases)
- Macroscopic hematuriaHPOHP:0012587
- Frequent (30% to 79% of cases)
- Macular dystrophyHPOHP:0007754
- Frequent (30% to 79% of cases)
- Membranoproliferative glomerulonephritisHPOHP:0000793
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: paternal uniparental disomy of chromosome 1
- Also called
- paternal uniparental disomy of chromosome type 1UPD(1)pat