retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Findings
No curated finding names retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Definition from the Mondo Disease Ontology (MONDO:0009983), read 2026-09-29. CC BY 4.0.
Features
27 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 retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Acanthosis nigricansHPOHP:0000956
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- GynecomastiaHPOHP:0000771
- Very frequent (80% to 99% of cases)
- Hypergonadotropic hypogonadismHPOHP:0000815
- Very frequent (80% to 99% of cases)
- HyperinsulinemiaHPOHP:0000842
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Broad footHPOHP:0001769
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
- Also called
- retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndromeretinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome