Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

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 (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0000771 Gynecomastia Very frequent (99-80%)
HP:0000815 Hypergonadotropic hypogonadism Very frequent (99-80%)
HP:0000842 Hyperinsulinemia Very frequent (99-80%)
HP:0000956 Acanthosis nigricans Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005978 Type II diabetes mellitus Very frequent (99-80%)
HP:0007703 Abnormality of retinal pigmentation Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000280 Coarse facial features Frequent (79-30%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000869 Secondary amenorrhea Frequent (79-30%)
HP:0000958 Dry skin Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001513 Obesity Frequent (79-30%)
HP:0001769 Broad foot Frequent (79-30%)
HP:0001831 Short toe Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0010562 Keloids Frequent (79-30%)
HP:0000147 Polycystic ovaries Occasional (29-5%)
HP:0001272 Cerebellar atrophy Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0003307 Hyperlordosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID