CILD37
MCID: CLR123
MIFTS: 18

Ciliary Dyskinesia, Primary, 37 (CILD37)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 37

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 37:

Name: Ciliary Dyskinesia, Primary, 37 58 76 30 6
Ciliary Dyskinesia, Primary, 37, with or Without Situs Inversus 58 76
Cild37 58 76
Primary Ciliary Dyskinesia 37 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 sisters (last curated july 2017)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080266
OMIM 58 617577
MeSH 45 D007619
SNOMED-CT via HPO 70 3716002 40930008 56018004 more

Summaries for Ciliary Dyskinesia, Primary, 37

UniProtKB/Swiss-Prot : 76 Ciliary dyskinesia, primary, 37: 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. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD37 inheritance is autosomal recessive.

MalaCards based summary : Ciliary Dyskinesia, Primary, 37, is also known as ciliary dyskinesia, primary, 37, with or without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 37 is DNAH1 (Dynein Axonemal Heavy Chain 1). Related phenotypes are hypothyroidism and goiter

Description from OMIM: 617577

Related Diseases for Ciliary Dyskinesia, Primary, 37

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 37

Human phenotypes related to Ciliary Dyskinesia, Primary, 37:

33
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 33 HP:0000821
2 goiter 33 HP:0000853
3 chronic rhinitis 33 HP:0002257
4 rhinorrhea 33 HP:0031417
5 wheezing 33 HP:0030828

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
hypothyroidism
colloid goiter with cystic degeneration

Cardiovascular Heart:
dextrocardia

Head And Neck Nose:
chronic rhinitis
nasal discharge

Cardiovascular Vascular:
right-sided aortic arch

Respiratory Airways:
frequent coughing
frequent wheezing

Genitourinary Internal Genitalia Female:
infertility

Respiratory Lung:
bronchiectasis

Abdomen:
situs inversus

Head And Neck Ears:
hearing loss, mild conductive

Abdomen Gastrointestinal:
right-sided stomach

Clinical features from OMIM:

617577

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 37

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 37

Genetic Tests for Ciliary Dyskinesia, Primary, 37

Genetic tests related to Ciliary Dyskinesia, Primary, 37:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 37 30 DNAH1

Anatomical Context for Ciliary Dyskinesia, Primary, 37

Publications for Ciliary Dyskinesia, Primary, 37

Articles related to Ciliary Dyskinesia, Primary, 37:

# Title Authors Year
1
Variation in DNAH1 may contribute to primary ciliary dyskinesia. ( 25927852 )
2015

Variations for Ciliary Dyskinesia, Primary, 37

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 37:

76
# Symbol AA change Variation ID SNP ID
1 DNAH1 p.Lys1154Gln VAR_079510

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 37:

6 (show top 50) (show all 564)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh37 Chromosome 3, 52387629: 52387629
2 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh38 Chromosome 3, 52353613: 52353613
3 DNAH1 NM_015512.4(DNAH1): c.1351A> G (p.Lys451Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs76591348 GRCh37 Chromosome 3, 52378570: 52378570
4 DNAH1 NM_015512.4(DNAH1): c.1351A> G (p.Lys451Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs76591348 GRCh38 Chromosome 3, 52344554: 52344554
5 DNAH1 NM_015512.4(DNAH1): c.569T> C (p.Ile190Thr) single nucleotide variant Benign rs61729450 GRCh38 Chromosome 3, 52326302: 52326302
6 DNAH1 NM_015512.4(DNAH1): c.569T> C (p.Ile190Thr) single nucleotide variant Benign rs61729450 GRCh37 Chromosome 3, 52360318: 52360318
7 DNAH1 NM_015512.4(DNAH1): c.1172A> G (p.Tyr391Cys) single nucleotide variant Benign rs181418923 GRCh38 Chromosome 3, 52332280: 52332280
8 DNAH1 NM_015512.4(DNAH1): c.1172A> G (p.Tyr391Cys) single nucleotide variant Benign rs181418923 GRCh37 Chromosome 3, 52366296: 52366296
9 DNAH1 NM_015512.4(DNAH1): c.1789C> T (p.Arg597Cys) single nucleotide variant Benign rs61734654 GRCh37 Chromosome 3, 52380620: 52380620
10 DNAH1 NM_015512.4(DNAH1): c.1789C> T (p.Arg597Cys) single nucleotide variant Benign rs61734654 GRCh38 Chromosome 3, 52346604: 52346604
11 DNAH1 NM_015512.4(DNAH1): c.1912G> A (p.Asp638Asn) single nucleotide variant Likely benign rs201988957 GRCh37 Chromosome 3, 52380743: 52380743
12 DNAH1 NM_015512.4(DNAH1): c.1912G> A (p.Asp638Asn) single nucleotide variant Likely benign rs201988957 GRCh38 Chromosome 3, 52346727: 52346727
13 DNAH1 NM_015512.4(DNAH1): c.1960C> T (p.Arg654Trp) single nucleotide variant Uncertain significance rs755225053 GRCh37 Chromosome 3, 52381844: 52381844
14 DNAH1 NM_015512.4(DNAH1): c.1960C> T (p.Arg654Trp) single nucleotide variant Uncertain significance rs755225053 GRCh38 Chromosome 3, 52347828: 52347828
15 DNAH1 NM_015512.4(DNAH1): c.1981A> G (p.Met661Val) single nucleotide variant Benign rs61734653 GRCh37 Chromosome 3, 52381865: 52381865
16 DNAH1 NM_015512.4(DNAH1): c.1981A> G (p.Met661Val) single nucleotide variant Benign rs61734653 GRCh38 Chromosome 3, 52347849: 52347849
17 DNAH1 NM_015512.4(DNAH1): c.2576A> G (p.Asn859Ser) single nucleotide variant Uncertain significance rs200428788 GRCh37 Chromosome 3, 52384054: 52384054
18 DNAH1 NM_015512.4(DNAH1): c.2576A> G (p.Asn859Ser) single nucleotide variant Uncertain significance rs200428788 GRCh38 Chromosome 3, 52350038: 52350038
19 DNAH1 NM_015512.4(DNAH1): c.3392C> A (p.Ala1131Asp) single nucleotide variant Uncertain significance rs1553633502 GRCh38 Chromosome 3, 52353545: 52353545
20 DNAH1 NM_015512.4(DNAH1): c.3392C> A (p.Ala1131Asp) single nucleotide variant Uncertain significance rs1553633502 GRCh37 Chromosome 3, 52387561: 52387561
21 DNAH1 NM_015512.4(DNAH1): c.3694-4C> G single nucleotide variant Benign rs550254957 GRCh37 Chromosome 3, 52390626: 52390626
22 DNAH1 NM_015512.4(DNAH1): c.3694-4C> G single nucleotide variant Benign rs550254957 GRCh38 Chromosome 3, 52356610: 52356610
23 DNAH1 NM_015512.4(DNAH1): c.4005A> G (p.Glu1335=) single nucleotide variant Likely benign rs1553634511 GRCh38 Chromosome 3, 52357922: 52357922
24 DNAH1 NM_015512.4(DNAH1): c.4005A> G (p.Glu1335=) single nucleotide variant Likely benign rs1553634511 GRCh37 Chromosome 3, 52391938: 52391938
25 DNAH1 NM_015512.4(DNAH1): c.5669G> T (p.Gly1890Val) single nucleotide variant Benign rs200859252 GRCh38 Chromosome 3, 52366791: 52366791
26 DNAH1 NM_015512.4(DNAH1): c.5669G> T (p.Gly1890Val) single nucleotide variant Benign rs200859252 GRCh37 Chromosome 3, 52400807: 52400807
27 DNAH1 NM_015512.4(DNAH1): c.6002C> T (p.Ser2001Phe) single nucleotide variant Uncertain significance rs772200369 GRCh38 Chromosome 3, 52369883: 52369883
28 DNAH1 NM_015512.4(DNAH1): c.6002C> T (p.Ser2001Phe) single nucleotide variant Uncertain significance rs772200369 GRCh37 Chromosome 3, 52403899: 52403899
29 DNAH1 NM_015512.4(DNAH1): c.7074dup (p.Arg2359Alafs) duplication Pathogenic rs762545991 GRCh38 Chromosome 3, 52375328: 52375328
30 DNAH1 NM_015512.4(DNAH1): c.7074dup (p.Arg2359Alafs) duplication Pathogenic rs762545991 GRCh37 Chromosome 3, 52409344: 52409344
31 DNAH1 NM_015512.4(DNAH1): c.7109A> C (p.Asp2370Ala) single nucleotide variant Likely benign rs202011102 GRCh37 Chromosome 3, 52409379: 52409379
32 DNAH1 NM_015512.4(DNAH1): c.7109A> C (p.Asp2370Ala) single nucleotide variant Likely benign rs202011102 GRCh38 Chromosome 3, 52375363: 52375363
33 DNAH1 NM_015512.4(DNAH1): c.8266G> A (p.Val2756Met) single nucleotide variant Benign rs61749019 GRCh37 Chromosome 3, 52417991: 52417991
34 DNAH1 NM_015512.4(DNAH1): c.8266G> A (p.Val2756Met) single nucleotide variant Benign rs61749019 GRCh38 Chromosome 3, 52383975: 52383975
35 DNAH1 NM_015512.4(DNAH1): c.8649G> C (p.Glu2883Asp) single nucleotide variant Likely benign rs79689614 GRCh38 Chromosome 3, 52386183: 52386183
36 DNAH1 NM_015512.4(DNAH1): c.8649G> C (p.Glu2883Asp) single nucleotide variant Likely benign rs79689614 GRCh37 Chromosome 3, 52420199: 52420199
37 DNAH1 NM_015512.4(DNAH1): c.9121C> T (p.Arg3041Cys) single nucleotide variant Benign rs61731638 GRCh38 Chromosome 3, 52388284: 52388284
38 DNAH1 NM_015512.4(DNAH1): c.9121C> T (p.Arg3041Cys) single nucleotide variant Benign rs61731638 GRCh37 Chromosome 3, 52422300: 52422300
39 DNAH1 NM_015512.4(DNAH1): c.9622-6C> T single nucleotide variant Uncertain significance rs946083803 GRCh38 Chromosome 3, 52390929: 52390929
40 DNAH1 NM_015512.4(DNAH1): c.9622-6C> T single nucleotide variant Uncertain significance rs946083803 GRCh37 Chromosome 3, 52424945: 52424945
41 DNAH1 NM_015512.4(DNAH1): c.9646C> G (p.Leu3216Val) single nucleotide variant Uncertain significance rs200158571 GRCh37 Chromosome 3, 52424975: 52424975
42 DNAH1 NM_015512.4(DNAH1): c.9646C> G (p.Leu3216Val) single nucleotide variant Uncertain significance rs200158571 GRCh38 Chromosome 3, 52390959: 52390959
43 DNAH1 NM_015512.4(DNAH1): c.9783C> T (p.Arg3261=) single nucleotide variant Benign rs61733865 GRCh37 Chromosome 3, 52425236: 52425236
44 DNAH1 NM_015512.4(DNAH1): c.9783C> T (p.Arg3261=) single nucleotide variant Benign rs61733865 GRCh38 Chromosome 3, 52391220: 52391220
45 DNAH1 NM_015512.4(DNAH1): c.9807C> T (p.Asn3269=) single nucleotide variant Benign rs199553284 GRCh38 Chromosome 3, 52391244: 52391244
46 DNAH1 NM_015512.4(DNAH1): c.9807C> T (p.Asn3269=) single nucleotide variant Benign rs199553284 GRCh37 Chromosome 3, 52425260: 52425260
47 DNAH1 NM_015512.4(DNAH1): c.10071A> G (p.Leu3357=) single nucleotide variant Likely benign rs554676148 GRCh37 Chromosome 3, 52426498: 52426498
48 DNAH1 NM_015512.4(DNAH1): c.10071A> G (p.Leu3357=) single nucleotide variant Likely benign rs554676148 GRCh38 Chromosome 3, 52392482: 52392482
49 DNAH1 NM_015512.4(DNAH1): c.10216G> A (p.Val3406Ile) single nucleotide variant Likely benign rs201752275 GRCh38 Chromosome 3, 52392627: 52392627
50 DNAH1 NM_015512.4(DNAH1): c.10216G> A (p.Val3406Ile) single nucleotide variant Likely benign rs201752275 GRCh37 Chromosome 3, 52426643: 52426643

Expression for Ciliary Dyskinesia, Primary, 37

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 37.

Pathways for Ciliary Dyskinesia, Primary, 37

GO Terms for Ciliary Dyskinesia, Primary, 37

Sources for Ciliary Dyskinesia, Primary, 37

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....