Deafness-infertility syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DIS
CHROMOSOME 15q15.3 DELETION SYNDROME
Number of Symptoms 10
OrphanetNr: 94064
OMIM Id: 611102
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 15
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
2
(HPO:0003251) Male infertility 14 / 7739
3
(HPO:0012207) Reduced sperm motility 5 / 7739
4
(HPO:0008669) Abnormal spermatogenesis Very frequent [Orphanet] 11 / 7739
5
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
6
(HPO:0008619) Bilateral sensorineural hearing impairment 23 / 7739
7
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
8
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Asthenoteratozoospermia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dgany et al. (2002) reported a nonconsanguineous French family in which a 56-year-old male and his 2 brothers suffered from type I congenital dyserythropoietic anemia (CDA) (224120), infertility, and nonsyndromic deafness. Further examination of the 3 brothers by ...
Molecular genetics OMIM In 3 French brothers with type I CDA, asthenoteratozoospermia, and nonsyndromic deafness, Dgany et al. (2002) identified homozygosity for a point mutation within the codanin gene (607465.0003) as the cause of the type I CDA. Avidan et al. ...