CILD34
MCID: CLR124
MIFTS: 21

Ciliary Dyskinesia, Primary, 34 (CILD34)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 34

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 34:

Name: Ciliary Dyskinesia, Primary, 34 56 73 29 6
Cild34 56 12 73
Ciliary Dyskinesia, Primary, 34, Without Situs Inversus 56
Primary Ciliary Dyskinesia 34 Without Situs Inversus 12
Primary Ciliary Dyskinesia 34 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
no laterality defects
three patients from 2 unrelated families have been reported (last curated august 2016)


HPO:

31
ciliary dyskinesia, primary, 34:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110610
OMIM 56 617091
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Ciliary Dyskinesia, Primary, 34

OMIM : 56 Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (617091)

MalaCards based summary : Ciliary Dyskinesia, Primary, 34, is also known as cild34. An important gene associated with Ciliary Dyskinesia, Primary, 34 is DNAJB13 (DnaJ Heat Shock Protein Family (Hsp40) Member B13). Related phenotypes are infertility and recurrent sinopulmonary infections

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has material basis in homozygous mutation in the DNAJB13 gene on chromosome 11q13.

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 34: A form of primary ciliary dyskinesia, 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. CILD34 inheritance is autosomal recessive.

Related Diseases for Ciliary Dyskinesia, Primary, 34

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 34

Human phenotypes related to Ciliary Dyskinesia, Primary, 34:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 recurrent sinopulmonary infections 31 HP:0005425

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
decreased nasal nitric oxide
decreased ciliary beating frequency
abnormal ciliary beating pattern
increased percentage of cilia lacking central microtubules (9 + 0 pattern)

Genitourinary Internal Genitalia Male:
infertility due to impaired sperm motility
decreased sperm count
decreased sperm viability

Respiratory:
recurrent sinopulmonary infections due to impaired ciliary function

Clinical features from OMIM:

617091

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 34

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 34

Genetic Tests for Ciliary Dyskinesia, Primary, 34

Genetic tests related to Ciliary Dyskinesia, Primary, 34:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 34 29 DNAJB13

Anatomical Context for Ciliary Dyskinesia, Primary, 34

Publications for Ciliary Dyskinesia, Primary, 34

Articles related to Ciliary Dyskinesia, Primary, 34:

# Title Authors PMID Year
1
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. 56 6
27486783 2016
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
5
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 34

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 34:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAJB13 NM_153614.3(DNAJB13):c.833T>G (p.Met278Arg)SNV Pathogenic 253328 rs754776389 11:73681041-73681041 11:73969996-73969996
2 DNAJB13 NM_153614.3(DNAJB13):c.68+1G>CSNV Pathogenic 253329 rs775700619 11:73662183-73662183 11:73951138-73951138
3 DNAJB13 NM_153614.3(DNAJB13):c.757G>A (p.Asp253Asn)SNV Likely benign 691974 rs140556652 11:73680327-73680327 11:73969282-73969282
4 DNAJB13 NM_153614.3(DNAJB13):c.173-1G>ASNV not provided 585050 rs1565171522 11:73670538-73670538 11:73959493-73959493

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 34:

73
# Symbol AA change Variation ID SNP ID
1 DNAJB13 p.Met278Arg VAR_077053 rs754776389

Expression for Ciliary Dyskinesia, Primary, 34

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 34.

Pathways for Ciliary Dyskinesia, Primary, 34

GO Terms for Ciliary Dyskinesia, Primary, 34

Sources for Ciliary Dyskinesia, Primary, 34

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HMDB
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32 ICD10
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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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