CILD37
MCID: CLR123
MIFTS: 27

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 56 73 29 6
Ciliary Dyskinesia, Primary, 37, with or Without Situs Inversus 56 73
Cild37 56 73
Primary Ciliary Dyskinesia 37 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 37:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 37

UniProtKB/Swiss-Prot : 73 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 hearing impairment and hypothyroidism

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 hypothyroidism 31 HP:0000821
3 infertility 31 HP:0000789
4 goiter 31 HP:0000853
5 situs inversus totalis 31 HP:0001696
6 bronchiectasis 31 HP:0002110
7 chronic rhinitis 31 HP:0002257
8 wheezing 31 HP:0030828
9 rhinorrhea 31 HP:0031417
10 right aortic arch 31 HP:0012020

Symptoms via clinical synopsis from OMIM:

56
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. 6 56
25927852 2015
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, 37

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

6 (show top 50) (show all 476) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAH1 NM_015512.5(DNAH1):c.7074dup (p.Arg2359fs)duplication Pathogenic 478376 rs762545991 3:52409343-52409344 3:52375327-52375328
2 DNAH1 NM_015512.5(DNAH1):c.1912_1913insGG (p.Asp638fs)insertion Pathogenic 478375 rs557979163 3:52380742-52380743 3:52346726-52346727
3 DNAH1 NM_015512.5(DNAH1):c.7676del (p.Val2559fs)deletion Pathogenic 544627 rs765417610 3:52415723-52415723 3:52381707-52381707
4 DNAH1 NM_015512.5(DNAH1):c.1941_1944del (p.Asn648fs)deletion Pathogenic 544604 rs1297408310 3:52380772-52380775 3:52346756-52346759
5 DNAH1 NM_015512.5(DNAH1):c.10464_10465AG[2] (p.Arg3490fs)short repeat Pathogenic 578911 rs759646845 3:52427031-52427034 3:52393015-52393018
6 DNAH1 NM_015512.5(DNAH1):c.5104C>T (p.Arg1702Ter)SNV Pathogenic 568905 rs766323732 3:52397020-52397020 3:52363004-52363004
7 DNAH1 NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter)SNV Pathogenic 645523 3:52423591-52423591 3:52389575-52389575
8 DNAH1 NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter)SNV Pathogenic 544605 rs200416242 3:52428490-52428490 3:52394474-52394474
9 DNAH1 NM_015512.5(DNAH1):c.436del (p.Gln146fs)deletion Pathogenic 856113 3:52360184-52360184 3:52326168-52326168
10 DNAH1 NM_015512.5(DNAH1):c.9340C>T (p.Gln3114Ter)SNV Pathogenic 869369 3:52422602-52422602 3:52388586-52388586
11 DNAH1 NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)SNV Pathogenic 209005 rs544674332 3:52387629-52387629 3:52353613-52353613
12 DNAH1 NM_015512.5(DNAH1):c.11610G>C (p.Lys3870Asn)SNV Likely pathogenic 869370 3:52430813-52430813 3:52396797-52396797
13 DNAH1 NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)SNV Conflicting interpretations of pathogenicity 290747 rs76591348 3:52378570-52378570 3:52344554-52344554
14 DNAH1 NM_015512.5(DNAH1):c.77T>C (p.Val26Ala)SNV Uncertain significance 857646 3:52356535-52356535 3:52322519-52322519
15 DNAH1 NM_015512.5(DNAH1):c.377A>G (p.Gln126Arg)SNV Uncertain significance 857064 3:52357867-52357867 3:52323851-52323851
16 DNAH1 NM_015512.5(DNAH1):c.475C>T (p.Arg159Trp)SNV Uncertain significance 842994 3:52360224-52360224 3:52326208-52326208
17 DNAH1 NM_015512.5(DNAH1):c.1092C>G (p.Cys364Trp)SNV Uncertain significance 842080 3:52366216-52366216 3:52332200-52332200
18 DNAH1 NM_015512.5(DNAH1):c.1154C>T (p.Thr385Met)SNV Uncertain significance 847031 3:52366278-52366278 3:52332262-52332262
19 DNAH1 NM_015512.5(DNAH1):c.1268G>A (p.Arg423Gln)SNV Uncertain significance 835671 3:52366392-52366392 3:52332376-52332376
20 DNAH1 NM_015512.5(DNAH1):c.1274G>A (p.Arg425His)SNV Uncertain significance 838756 3:52366398-52366398 3:52332382-52332382
21 DNAH1 NM_015512.5(DNAH1):c.1774C>T (p.Leu592Phe)SNV Uncertain significance 853421 3:52380605-52380605 3:52346589-52346589
22 DNAH1 NM_015512.5(DNAH1):c.1835G>A (p.Arg612His)SNV Uncertain significance 843530 3:52380666-52380666 3:52346650-52346650
23 DNAH1 NM_015512.5(DNAH1):c.2542C>T (p.Arg848Cys)SNV Uncertain significance 853737 3:52384020-52384020 3:52350004-52350004
24 DNAH1 NM_015512.5(DNAH1):c.3139G>A (p.Ala1047Thr)SNV Uncertain significance 845649 3:52387230-52387230 3:52353214-52353214
25 DNAH1 NM_015512.5(DNAH1):c.3191T>C (p.Met1064Thr)SNV Uncertain significance 846982 3:52387282-52387282 3:52353266-52353266
26 DNAH1 NM_015512.5(DNAH1):c.3259C>T (p.Arg1087Cys)SNV Uncertain significance 835672 3:52387428-52387428 3:52353412-52353412
27 DNAH1 NM_015512.5(DNAH1):c.3353T>C (p.Ile1118Thr)SNV Uncertain significance 843469 3:52387522-52387522 3:52353506-52353506
28 DNAH1 NM_015512.5(DNAH1):c.3621G>A (p.Met1207Ile)SNV Uncertain significance 861984 3:52388999-52388999 3:52354983-52354983
29 DNAH1 NM_015512.5(DNAH1):c.4435G>C (p.Gly1479Arg)SNV Uncertain significance 854463 3:52393959-52393959 3:52359943-52359943
30 DNAH1 NM_015512.5(DNAH1):c.4603C>T (p.Arg1535Cys)SNV Uncertain significance 838093 3:52394358-52394358 3:52360342-52360342
31 DNAH1 NM_015512.5(DNAH1):c.5479C>T (p.Arg1827Cys)SNV Uncertain significance 849741 3:52398996-52398996 3:52364980-52364980
32 DNAH1 NM_015512.5(DNAH1):c.5889_5890delinsCT (p.Asp1964Tyr)indel Uncertain significance 860085 3:52402880-52402881 3:52368864-52368865
33 DNAH1 NM_015512.5(DNAH1):c.6031A>G (p.Ser2011Gly)SNV Uncertain significance 842934 3:52403928-52403928 3:52369912-52369912
34 DNAH1 NM_015512.5(DNAH1):c.6554C>T (p.Ser2185Leu)SNV Uncertain significance 835525 3:52405990-52405990 3:52371974-52371974
35 DNAH1 NM_015512.5(DNAH1):c.6733C>G (p.Leu2245Val)SNV Uncertain significance 842506 3:52406309-52406309 3:52372293-52372293
36 DNAH1 NM_015512.5(DNAH1):c.6788A>G (p.Asn2263Ser)SNV Uncertain significance 836461 3:52406364-52406364 3:52372348-52372348
37 DNAH1 NM_015512.5(DNAH1):c.6958G>A (p.Gly2320Ser)SNV Uncertain significance 849283 3:52407042-52407042 3:52373026-52373026
38 DNAH1 NM_015512.5(DNAH1):c.7099G>A (p.Ala2367Thr)SNV Uncertain significance 864753 3:52409369-52409369 3:52375353-52375353
39 DNAH1 NM_015512.5(DNAH1):c.7126C>T (p.Arg2376Cys)SNV Uncertain significance 842814 3:52409396-52409396 3:52375380-52375380
40 DNAH1 NM_015512.5(DNAH1):c.7187G>A (p.Arg2396Gln)SNV Uncertain significance 849744 3:52409998-52409998 3:52375982-52375982
41 DNAH1 NM_015512.5(DNAH1):c.7351C>T (p.Leu2451Phe)SNV Uncertain significance 857955 3:52412770-52412770 3:52378754-52378754
42 DNAH1 NM_015512.5(DNAH1):c.7718G>A (p.Arg2573His)SNV Uncertain significance 837964 3:52415765-52415765 3:52381749-52381749
43 DNAH1 NM_015512.5(DNAH1):c.7739G>T (p.Gly2580Val)SNV Uncertain significance 839828 3:52415786-52415786 3:52381770-52381770
44 DNAH1 NM_015512.5(DNAH1):c.8491C>A (p.Arg2831Ser)SNV Uncertain significance 839164 3:52418970-52418970 3:52384954-52384954
45 DNAH1 NM_015512.5(DNAH1):c.8567T>A (p.Met2856Lys)SNV Uncertain significance 846507 3:52419405-52419405 3:52385389-52385389
46 DNAH1 NM_015512.5(DNAH1):c.8879G>C (p.Gly2960Ala)SNV Uncertain significance 840738 3:52420745-52420745 3:52386729-52386729
47 DNAH1 NM_015512.5(DNAH1):c.9287G>A (p.Arg3096Gln)SNV Uncertain significance 835591 3:52422549-52422549 3:52388533-52388533
48 DNAH1 NM_015512.5(DNAH1):c.9371A>G (p.Asn3124Ser)SNV Uncertain significance 850394 3:52422829-52422829 3:52388813-52388813
49 DNAH1 NM_015512.5(DNAH1):c.9560A>G (p.His3187Arg)SNV Uncertain significance 837083 3:52423541-52423541 3:52389525-52389525
50 DNAH1 NM_015512.5(DNAH1):c.9700A>G (p.Ile3234Val)SNV Uncertain significance 847835 3:52425029-52425029 3:52391013-52391013

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

73
# Symbol AA change Variation ID SNP ID
1 DNAH1 p.Lys1154Gln VAR_079510 rs544674332

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

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