DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 300719
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000789) Infertility 74 / 7739
2
(HPO:0000518) Cataract 454 / 7739
3
(HPO:0007787) Posterior subcapsular cataract 20 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0000365) Hearing impairment 539 / 7739
6
(HPO:0001000) Abnormality of skin pigmentation 105 / 7739
7
(OMIM) Deafness, bilateral with postpubertal onset and rapid progression to profound deafness within 5 to 6 years 1 / 7739
8
(HPO:0001419) X-linked recessive inheritance 189 / 7739
9
(OMIM) Pigmentary changes consistent with retinitis pigmentosa 1 / 7739
10
(OMIM) Misshapen sperm with decreased motility 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Malekpour et al. (2007) described 5 Iranian brothers, born of healthy first-cousin Kurdish parents, who had late-onset progressive hearing loss, posterior subcapsular cataract, pigmentary changes consistent with retinitis pigmentosa, and a spectrum of sperm abnormalities. The 2 unaffected ...