CILD12
MCID: CLR054
MIFTS: 21

Ciliary Dyskinesia, Primary, 12 (CILD12)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 12

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 12:

Name: Ciliary Dyskinesia, Primary, 12 56 73 29 13 6 71
Cild12 56 12 73
Primary Ciliary Dyskinesia 12 Without Situs Inversus 12 73
Ciliary Dyskinesia, Primary, 12, Without Situs Inversus 56
Dyskinesia, Ciliary, Primary, Type 12 39
Primary Ciliary Dyskinesia 12 12
Immotile Cilia Syndrome 12 73
Ics12 73

Characteristics:

HPO:

31
ciliary dyskinesia, primary, 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110601
OMIM 56 612650
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
MedGen 41 C2675228
UMLS 71 C2675228

Summaries for Ciliary Dyskinesia, Primary, 12

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 12: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

MalaCards based summary : Ciliary Dyskinesia, Primary, 12, is also known as cild12. An important gene associated with Ciliary Dyskinesia, Primary, 12 is RSPH9 (Radial Spoke Head Component 9). Related phenotypes are recurrent respiratory infections and short stature

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has material basis in homozygous mutation in the RSPH9 gene on chromosome 6p21.

More information from OMIM: 612650 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 12

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 12

Human phenotypes related to Ciliary Dyskinesia, Primary, 12:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 short stature 31 HP:0004322
3 exercise intolerance 31 HP:0003546
4 chronic sinusitis 31 HP:0011109
5 bronchiectasis 31 HP:0002110
6 chronic rhinitis 31 HP:0002257
7 ciliary dyskinesia 31 HP:0012265
8 nonmotile sperm 31 HP:0012208
9 abnormal central microtubular pair morphology of respiratory motile cilia 31 HP:0012260

Clinical features from OMIM:

612650

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 12

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 12

Genetic Tests for Ciliary Dyskinesia, Primary, 12

Genetic tests related to Ciliary Dyskinesia, Primary, 12:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 12 29 RSPH9

Anatomical Context for Ciliary Dyskinesia, Primary, 12

Publications for Ciliary Dyskinesia, Primary, 12

Articles related to Ciliary Dyskinesia, Primary, 12:

# Title Authors PMID Year
1
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 6 56
23993197 2013
2
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 6 56
19200523 2009
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
5
Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. 56
20070851 2010
6
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
7
Primary Ciliary Dyskinesia 6
20301301 2007
8
HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome. 56
1601418 1992

Variations for Ciliary Dyskinesia, Primary, 12

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 12:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RSPH9 NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del)short repeat Pathogenic 66994 rs397515340 6:43638659-43638661 6:43670922-43670924
2 RSPH9 NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)SNV Pathogenic 66995 rs397515488 6:43612887-43612887 6:43645150-43645150

Expression for Ciliary Dyskinesia, Primary, 12

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 12.

Pathways for Ciliary Dyskinesia, Primary, 12

GO Terms for Ciliary Dyskinesia, Primary, 12

Sources for Ciliary Dyskinesia, Primary, 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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