CILIARY DYSKINESIA, PRIMARY, 12

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS
CILD12
Number of Symptoms 10
OrphanetNr:
OMIM Id: 612650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012208) Nonmotile sperm 19200523 IBIS 4 / 7739
2
(HPO:0011109) Chronic sinusitis 19200523 IBIS 17 / 7739
3
(HPO:0002257) Chronic rhinitis 19200523 IBIS 10 / 7739
4
(HPO:0004322) Short stature 19200523 IBIS 1232 / 7739
5
(HPO:0002110) Bronchiectasis 19200523 IBIS 73 / 7739
6
(HPO:0012265) Ciliary dyskinesia 19200523 IBIS 32 / 7739
7
(HPO:0002205) Recurrent respiratory infections 19200523 IBIS 254 / 7739
8
(HPO:0012260) Abnormal central microtubular pair morphology of respiratory motile cilia 19200523 IBIS 2 / 7739
9
(HPO:0003546) Exercise intolerance 19200523 IBIS 62 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Castleman et al. (2009) reported 2 unrelated but consanguineous Bedouin families with primary ciliary dyskinesia. One family was from the United Arab Emirates (Emirati), and the other was from Israel. Clinical features included reduced exercise tolerance, chronic wet ...
Molecular genetics OMIM In all 7 affected members of the Israeli Bedouin and Emirati Bedouin families with CILD12, Castleman et al. (2009) identified a homozygous deletion in the RSPH9 gene (612648.0001).

Kott et al. (2013) identified pathogenic homozygous mutations ...

Population genetics OMIM Reish et al. (2010) found only a small 1.9-Mb region of homozygosity that showed identity by descent at the chromosome 6p21.1 locus that was shared between the Israeli Bedouin and Emirati Bedouin families with CILD12 reported by Castleman ...