CILD37
MCID: CLR123
MIFTS: 26

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 57 74 29 6
Ciliary Dyskinesia, Primary, 37, with or Without Situs Inversus 57 74
Cild37 57 74
Primary Ciliary Dyskinesia 37 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ciliary dyskinesia, primary, 37:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080266
MeSH 44 D007619

Summaries for Ciliary Dyskinesia, Primary, 37

UniProtKB/Swiss-Prot : 74 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 hearing impairment

More information from OMIM: 617577 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 37

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 37

Human phenotypes related to Ciliary Dyskinesia, Primary, 37:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 32 HP:0000821
2 hearing impairment 32 HP:0000365
3 goiter 32 HP:0000853
4 infertility 32 HP:0000789
5 situs inversus totalis 32 HP:0001696
6 bronchiectasis 32 HP:0002110
7 chronic rhinitis 32 HP:0002257
8 wheezing 32 HP:0030828
9 rhinorrhea 32 HP:0031417
10 right aortic arch 32 HP:0012020

Symptoms via clinical synopsis from OMIM:

57
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 29 DNAH1

Anatomical Context for Ciliary Dyskinesia, Primary, 37

Publications for Ciliary Dyskinesia, Primary, 37

Articles related to Ciliary Dyskinesia, Primary, 37:

# Title Authors PMID Year
1
Variation in DNAH1 may contribute to primary ciliary dyskinesia. 8 71
25927852 2015
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
5
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 37

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

6 (show top 50) (show all 352)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DNAH1 NM_015512.5(DNAH1): c.7074dup (p.Arg2359fs) duplication Pathogenic rs762545991 3:52409344-52409344 3:52375328-52375328
2 DNAH1 NM_015512.5(DNAH1): c.1912_1913insGG (p.Asp638fs) insertion Pathogenic rs557979163 3:52380743-52380744 3:52346727-52346728
3 DNAH1 NM_015512.5(DNAH1): c.7676del (p.Val2559fs) deletion Pathogenic rs765417610 3:52415723-52415723 3:52381707-52381707
4 DNAH1 NM_015512.5(DNAH1): c.1941_1944del (p.Asn648fs) deletion Pathogenic rs1297408310 3:52380772-52380775 3:52346756-52346759
5 DNAH1 NM_015512.5(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 3:52387629-52387629 3:52353613-52353613
6 DNAH1 NM_015512.5(DNAH1): c.10464_10465AG[2] (p.Arg3490fs) short repeat Pathogenic 3:52427035-52427038 3:52393019-52393022
7 DNAH1 NM_015512.5(DNAH1): c.5104C> T (p.Arg1702Ter) single nucleotide variant Pathogenic 3:52397020-52397020 3:52363004-52363004
8 DNAH1 NM_015512.5(DNAH1): c.9610C> T (p.Arg3204Ter) single nucleotide variant Pathogenic 3:52423591-52423591 3:52389575-52389575
9 DNAH1 NM_015512.5(DNAH1): c.10636C> T (p.Arg3546Ter) single nucleotide variant Pathogenic rs200416242 3:52428490-52428490 3:52394474-52394474
10 DNAH1 NM_015512.5(DNAH1): c.1351A> G (p.Lys451Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs76591348 3:52378570-52378570 3:52344554-52344554
11 DNAH1 NM_015512.5(DNAH1): c.170C> T (p.Pro57Leu) single nucleotide variant Uncertain significance 3:52356628-52356628 3:52322612-52322612
12 DNAH1 NM_015512.5(DNAH1): c.197C> T (p.Pro66Leu) single nucleotide variant Uncertain significance 3:52356655-52356655 3:52322639-52322639
13 DNAH1 NM_015512.5(DNAH1): c.408C> A (p.Val136=) single nucleotide variant Uncertain significance 3:52360157-52360157 3:52326141-52326141
14 DNAH1 NM_015512.5(DNAH1): c.2489A> C (p.Asp830Ala) single nucleotide variant Uncertain significance 3:52383399-52383399 3:52349383-52349383
15 DNAH1 NM_015512.5(DNAH1): c.3508T> A (p.Ser1170Thr) single nucleotide variant Uncertain significance 3:52388886-52388886 3:52354870-52354870
16 DNAH1 NM_015512.5(DNAH1): c.3604G> A (p.Val1202Ile) single nucleotide variant Uncertain significance 3:52388982-52388982 3:52354966-52354966
17 DNAH1 NM_015512.5(DNAH1): c.4705G> A (p.Gly1569Arg) single nucleotide variant Uncertain significance 3:52395199-52395199 3:52361183-52361183
18 DNAH1 NM_015512.5(DNAH1): c.5740G> A (p.Glu1914Lys) single nucleotide variant Uncertain significance 3:52400878-52400878 3:52366862-52366862
19 DNAH1 NM_015512.5(DNAH1): c.8662G> T (p.Val2888Leu) single nucleotide variant Uncertain significance 3:52420212-52420212 3:52386196-52386196
20 DNAH1 NM_015512.5(DNAH1): c.9373G> A (p.Gly3125Arg) single nucleotide variant Uncertain significance 3:52422831-52422831 3:52388815-52388815
21 DNAH1 NM_015512.5(DNAH1): c.10228G> C (p.Glu3410Gln) single nucleotide variant Uncertain significance 3:52426655-52426655 3:52392639-52392639
22 DNAH1 NM_015512.5(DNAH1): c.640G> A (p.Asp214Asn) single nucleotide variant Uncertain significance 3:52360809-52360809 3:52326793-52326793
23 DNAH1 NM_015512.5(DNAH1): c.1087T> C (p.Phe363Leu) single nucleotide variant Uncertain significance 3:52366211-52366211 3:52332195-52332195
24 DNAH1 NM_015512.5(DNAH1): c.1708C> A (p.Arg570Ser) single nucleotide variant Uncertain significance 3:52380539-52380539 3:52346523-52346523
25 DNAH1 NM_015512.5(DNAH1): c.2134G> A (p.Gly712Ser) single nucleotide variant Uncertain significance 3:52382931-52382931 3:52348915-52348915
26 DNAH1 NM_015512.5(DNAH1): c.2144T> A (p.Leu715Gln) single nucleotide variant Uncertain significance 3:52382941-52382941 3:52348925-52348925
27 DNAH1 NM_015512.5(DNAH1): c.2408T> C (p.Ile803Thr) single nucleotide variant Uncertain significance 3:52383318-52383318 3:52349302-52349302
28 DNAH1 NM_015512.5(DNAH1): c.3202G> A (p.Val1068Met) single nucleotide variant Uncertain significance 3:52387293-52387293 3:52353277-52353277
29 DNAH1 NM_015512.5(DNAH1): c.4022C> T (p.Ser1341Leu) single nucleotide variant Uncertain significance 3:52391955-52391955 3:52357939-52357939
30 DNAH1 NM_015512.5(DNAH1): c.4085_4086delinsTT (p.Arg1362Leu) indel Uncertain significance 3:52392018-52392019 3:52358002-52358003
31 DNAH1 NM_015512.5(DNAH1): c.4108G> A (p.Glu1370Lys) single nucleotide variant Uncertain significance 3:52392595-52392595 3:52358579-52358579
32 DNAH1 NM_015512.5(DNAH1): c.5348G> A (p.Arg1783Gln) single nucleotide variant Uncertain significance 3:52398865-52398865 3:52364849-52364849
33 DNAH1 NM_015512.5(DNAH1): c.7150A> C (p.Asn2384His) single nucleotide variant Uncertain significance 3:52409420-52409420 3:52375404-52375404
34 DNAH1 NM_015512.5(DNAH1): c.10489C> T (p.Arg3497Cys) single nucleotide variant Uncertain significance 3:52427364-52427364 3:52393348-52393348
35 DNAH1 NM_015512.5(DNAH1): c.11035C> G (p.Pro3679Ala) single nucleotide variant Uncertain significance 3:52429390-52429390 3:52395374-52395374
36 DNAH1 NM_015512.5(DNAH1): c.12286C> T (p.Arg4096Cys) single nucleotide variant Uncertain significance 3:52433062-52433062 3:52399046-52399046
37 DNAH1 NM_015512.5(DNAH1): c.577G> A (p.Glu193Lys) single nucleotide variant Uncertain significance 3:52360326-52360326 3:52326310-52326310
38 DNAH1 NM_015512.5(DNAH1): c.1897G> A (p.Val633Met) single nucleotide variant Uncertain significance 3:52380728-52380728 3:52346712-52346712
39 DNAH1 NM_015512.5(DNAH1): c.4122G> A (p.Met1374Ile) single nucleotide variant Uncertain significance 3:52392609-52392609 3:52358593-52358593
40 DNAH1 NM_015512.5(DNAH1): c.6258+5A> G single nucleotide variant Uncertain significance 3:52404250-52404250 3:52370234-52370234
41 DNAH1 NM_015512.5(DNAH1): c.6971A> G (p.Asp2324Gly) single nucleotide variant Uncertain significance 3:52407055-52407055 3:52373039-52373039
42 DNAH1 NM_015512.5(DNAH1): c.8800G> A (p.Asp2934Asn) single nucleotide variant Uncertain significance 3:52420350-52420350 3:52386334-52386334
43 DNAH1 NM_015512.5(DNAH1): c.9326G> C (p.Cys3109Ser) single nucleotide variant Uncertain significance 3:52422588-52422588 3:52388572-52388572
44 DNAH1 NM_015512.5(DNAH1): c.9671A> G (p.Asn3224Ser) single nucleotide variant Uncertain significance 3:52425000-52425000 3:52390984-52390984
45 DNAH1 NM_015512.5(DNAH1): c.9811A> G (p.Ile3271Val) single nucleotide variant Uncertain significance 3:52425264-52425264 3:52391248-52391248
46 DNAH1 NM_015512.5(DNAH1): c.11675_11676delinsCT (p.Arg3892Pro) indel Uncertain significance 3:52430948-52430949 3:52396932-52396933
47 DNAH1 NM_015512.5(DNAH1): c.11743G> A (p.Ala3915Thr) single nucleotide variant Uncertain significance 3:52431016-52431016 3:52397000-52397000
48 DNAH1 NM_015512.5(DNAH1): c.12572T> C (p.Leu4191Pro) single nucleotide variant Uncertain significance 3:52433691-52433691 3:52399675-52399675
49 DNAH1 NM_015512.5(DNAH1): c.2998G> A (p.Glu1000Lys) single nucleotide variant Uncertain significance 3:52386694-52386694 3:52352678-52352678
50 DNAH1 NM_015512.5(DNAH1): c.4772C> T (p.Thr1591Ile) single nucleotide variant Uncertain significance 3:52395266-52395266 3:52361250-52361250

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

74
# Symbol AA change Variation ID SNP ID
1 DNAH1 p.Lys1154Gln VAR_079510 rs544674332

Expression for Ciliary Dyskinesia, Primary, 37

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Pathways for Ciliary Dyskinesia, Primary, 37

GO Terms for Ciliary Dyskinesia, Primary, 37

Sources for Ciliary Dyskinesia, Primary, 37

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