RETINITIS PIGMENTOSA 28

General Information (adopted from Orphanet):

Synonyms, Signs: RP28
Number of Symptoms 6
OrphanetNr:
OMIM Id: 606068
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0001133) Constriction of peripheral visual field 20705278 IBIS 33 / 7739
2
(HPO:0007737) Bone spicule pigmentation of the retina 20705278 IBIS 26 / 7739
3
(HPO:0000543) Optic disc pallor 20705278 IBIS 67 / 7739
4
(HPO:0000510) Rod-cone dystrophy 20705278 IBIS 266 / 7739
5
(HPO:0000662) Nyctalopia 20705278 IBIS 92 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

FAM161A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gu et al. (1999) described a consanguineous Indian family in which 4 members in 2 generations had autosomal recessive RP. Age of onset was between 5 and 15 years. The 3 oldest members, aged 39 to 47, had severe ...
Molecular genetics OMIM Using traces of DNA from 1 of the patients with retinitis pigmentosa (RP) mapping to 2p15-p11 studied by Gu et al. (1999), Langmann et al. (2010) analyzed the candidate gene FAM161A and identified a homozygous mutation (R229X; 613596.0001). The ...