Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.



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

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000044 Hypogonadotrophic hypogonadism Obligate (100%)
HP:0000510 Rod-cone dystrophy Obligate (100%)
HP:0000580 Pigmentary retinopathy Obligate (100%)
HP:0000144 Decreased fertility Very frequent (99-80%)
HP:0000786 Primary amenorrhea Very frequent (99-80%)
HP:0000823 Delayed puberty Very frequent (99-80%)
HP:0000830 Anterior hypopituitarism Very frequent (99-80%)
HP:0000939 Osteoporosis Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency Very frequent (99-80%)
HP:0003187 Breast hypoplasia Very frequent (99-80%)
HP:0008187 Absence of secondary sex characteristics Very frequent (99-80%)
HP:0008202 Prolactin deficiency Very frequent (99-80%)
HP:0008240 Secondary growth hormone deficiency Very frequent (99-80%)
HP:0008724 Hypoplasia of the ovary Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0001513 Obesity Frequent (79-30%)
HP:0002757 Recurrent fractures Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0004349 Reduced bone mineral density Frequent (79-30%)


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