MCID: CLR054
MIFTS: 21

Ciliary Dyskinesia, Primary, 12

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 12

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 12:

Name: Ciliary Dyskinesia, Primary, 12 57 75 29 13 6 73
Cild12 57 12 75
Primary Ciliary Dyskinesia 12 Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 12, Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, Type 12 40
Primary Ciliary Dyskinesia 12 12
Immotile Cilia Syndrome 12 75
Ics12 75

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612650
Disease Ontology 12 DOID:0110601
ICD10 33 Q34.8
MedGen 42 C2675228
MeSH 44 D007619
UMLS 73 C2675228

Summaries for Ciliary Dyskinesia, Primary, 12

UniProtKB/Swiss-Prot : 75 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, also known as cild12, is related to kartagener syndrome. An important gene associated with Ciliary Dyskinesia, Primary, 12 is RSPH9 (Radial Spoke Head 9 Homolog). Related phenotypes are bronchiectasis and recurrent respiratory infections

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.

Description from OMIM: 612650

Related Diseases for Ciliary Dyskinesia, Primary, 12

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 12

Clinical features from OMIM:

612650

Human phenotypes related to Ciliary Dyskinesia, Primary, 12:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 bronchiectasis 32 HP:0002110
2 recurrent respiratory infections 32 HP:0002205
3 chronic rhinitis 32 HP:0002257
4 exercise intolerance 32 HP:0003546
5 short stature 32 HP:0004322
6 chronic sinusitis 32 HP:0011109
7 nonmotile sperm 32 HP:0012208
8 abnormal central microtubular pair morphology of respiratory motile cilia 32 HP:0012260
9 ciliary dyskinesia 32 HP:0012265

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

Variations for Ciliary Dyskinesia, Primary, 12

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh37 Chromosome 6, 43638659: 43638661
2 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh38 Chromosome 6, 43670922: 43670924
3 RSPH9 NM_152732.4(RSPH9): c.52C> T (p.Gln18Ter) single nucleotide variant Pathogenic rs397515488 GRCh37 Chromosome 6, 43612887: 43612887
4 RSPH9 NM_152732.4(RSPH9): c.52C> T (p.Gln18Ter) single nucleotide variant Pathogenic rs397515488 GRCh38 Chromosome 6, 43645150: 43645150
5 RSPH9 NM_152732.4(RSPH9): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs376496894 GRCh37 Chromosome 6, 43623371: 43623371
6 RSPH9 NM_152732.4(RSPH9): c.466C> T (p.Arg156Ter) single nucleotide variant Pathogenic rs376496894 GRCh38 Chromosome 6, 43655634: 43655634

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....