MCID: HTR008
MIFTS: 48

Heterotaxy, Visceral, 5 malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Heterotaxy, Visceral, 5

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Aliases & Descriptions for Heterotaxy, Visceral, 5:

Name: Heterotaxy, Visceral, 5 52 12
Situs Inversus 11 48 50 39 13
Situs Inversus Viscerum 11 48 70 27
Siv 48 70
 
Heterotaxy, Visceral, 5, Autosomal 70
Complete Transposition 11
Laterality Sequence 11
Htx5 70

Characteristics:

HPO:

64

Classifications:



External Ids:

OMIM52 270100
Disease Ontology11 DOID:758
ICD1030 Q89.3
ICD9CM32 759.3
NCIt45 C87121

Summaries for Heterotaxy, Visceral, 5

About this section
UniProtKB/Swiss-Prot:70 Heterotaxy, visceral, 5, autosomal: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia.

MalaCards based summary: Heterotaxy, Visceral, 5, also known as situs inversus, is related to keratoconus and dextrocardia with situs inversus, and has symptoms including intrauterine growth retardation, ventricular septal defect and atria septal defect. An important gene associated with Heterotaxy, Visceral, 5 is NODAL (Nodal Growth Differentiation Factor), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include lung, heart and liver, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

OMIM:52 Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition... (270100) more...

NIH Rare Diseases:48 Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported. Last updated: 6/1/2015

Related Diseases for Heterotaxy, Visceral, 5

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Diseases in the Visceral Heterotaxy family:

Heterotaxy, Visceral, 2, Autosomal Heterotaxy, Visceral, 4, Autosomal
Heterotaxy, Visceral, 3, Autosomal heterotaxy, visceral, 5
Heterotaxy, Visceral, 6, Autosomal Recessive Acvr2b-Related Visceral Heterotaxy
Cfc1-Related Visceral Heterotaxy Lefty2-Related Visceral Heterotaxy
Nodal-Related Visceral Heterotaxy Zic3-Related Visceral Heterotaxy
Heterotaxy, Visceral, 7, Autosomal

Diseases related to Heterotaxy, Visceral, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 260)
idRelated DiseaseScoreTop Affiliating Genes
1keratoconus25.2CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1
2dextrocardia with situs inversus12.3
3ciliary dyskinesia, primary, 1, with or without situs inversus12.3
4ciliary dyskinesia, primary, 3, with or without situs inversus12.3
5ciliary dyskinesia, primary, 9, with or without situs inversus12.3
6ciliary dyskinesia, primary, 7, with or without situs inversus12.3
7retinitis pigmentosa with or without situs inversus12.3
8hypoglossia with situs inversus hypoglossia, isolated, included12.2
9chondrodysplasia situs inversus imperforate anus polydactyly12.2
10aglossia and situs inversus12.0
11jeune syndrome situs inversus12.0
12situs inversus totalis with cystic dysplasia of kidneys and pancreas12.0
13ciliary dyskinesia, primary, 1811.7
14ciliary dyskinesia, primary, 2311.7
15ciliary dyskinesia, primary, 511.7
16levocardia11.7
17agnathia-otocephaly complex11.7
18ciliary dyskinesia, primary, 2811.7
19ciliary dyskinesia, primary, 1911.7
20ciliary dyskinesia, primary, 2711.7
21ciliary dyskinesia, primary, 1011.7
22ciliary dyskinesia, primary, 1611.7
23ciliary dyskinesia, primary, 2511.7
24ciliary dyskinesia, primary, 1711.7
25ciliary dyskinesia, primary, 2011.7
26ciliary dyskinesia, primary, 2611.7
27kartagener syndrome11.7
28primary ciliary dyskinesia 3511.7
29ciliary dyskinesia, primary, 2111.6
30ciliary dyskinesia, primary, 2211.6
31ciliary dyskinesia, primary, 1411.6
32ciliary dyskinesia, primary, 2911.6
33ciliary dyskinesia, primary, 1211.6
34ciliary dyskinesia, primary, 1111.6
35ciliary dyskinesia, primary, 1311.6
36ciliary dyskinesia, primary, 1511.6
37ciliary dyskinesia, primary, 3011.6
38ciliary dyskinesia, primary, 211.6
39ciliary dyskinesia, primary, 2411.6
40heterotaxy, visceral, 1, x-linked11.6
41visceral heterotaxy11.6
42dextrocardia11.5
43ciliary dyskinesia, primary, 411.5
44isolated levocardia11.4
45swine influenza11.4
46right atrial isomerism11.1
47nodal-related visceral heterotaxy11.1
48ciliary dyskinesia, primary, 611.1
49ciliary dyskinesia, primary, 3211.0
50primary ciliary dyskinesia 3311.0

Graphical network of the top 20 diseases related to Heterotaxy, Visceral, 5:



Diseases related to heterotaxy, visceral, 5

Symptoms & Phenotypes for Heterotaxy, Visceral, 5

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Symptoms by clinical synopsis from OMIM:

270100

Clinical features from OMIM:

270100

Human phenotypes related to Heterotaxy, Visceral, 5:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation64 HP:0001511
2 ventricular septal defect64 HP:0001629
3 atria septal defect64 HP:0001631
4 transposition of the great arteries64 HP:0001669
5 abnormality of the respiratory system64 HP:0002086
6 abdominal situs inversus64 HP:0003363

MGI Mouse Phenotypes related to Heterotaxy, Visceral, 5 according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.8CCDC39, DNAH11, DNAH5, INVS, NODAL
2MP:00053709.7CCDC39, DNAH11, DNAH5, INVS, NODAL
3MP:00053829.3CCDC39, DNAH11, DNAH5, DNAI1, NODAL, NPHP3
4MP:00053679.1CCDC39, CCDC40, DNAH11, DNAH5, INVS, NPHP3
5MP:00053889.0CCDC39, CCDC40, DNAH11, DNAH5, DNAI1, INVS
6MP:00053859.0CCDC39, DNAH11, DNAH5, DNAI1, INVS, NODAL
7MP:00053979.0CCDC39, DNAH11, DNAH5, DNAI1, INVS, NODAL
8MP:00053879.0CCDC39, DNAH11, DNAH5, DNAI1, INVS, NODAL
9MP:00053848.7CCDC39, CCDC40, DNAH11, DNAH5, DNAI1, INVS
10MP:00053788.7CCDC39, CCDC40, DNAH11, DNAH5, DNAI1, INVS
11MP:00053908.4CCDC39, DNAH11, DNAH5, DNAI1, NODAL, NPHP3
12MP:00107687.6CCDC39, CCDC40, DNAH5, DNAI1, DNAL4, INVS

Drugs & Therapeutics for Heterotaxy, Visceral, 5

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Drugs for Heterotaxy, Visceral, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 27793
2
Nitric Oxideapproved59910102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
3
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
4
Dobutamineapproved11434368-04-236811
Synonyms:
(+-)-4-(2-((3-(P-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
(+-)-4-(2-((3-(p-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
3,4-Dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
3,4-dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
34368-04-2
34368-04-2 (Parent)
4-(2-{[3-(4-hydroxyphenyl)-1-methylpropyl]amino}ethyl)benzene-1,2-diol
4-(2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)benzene-1,2-diol
4-[2-[4-(4-hydroxyphenyl)butan-2-ylamino]ethyl]benzene-1,2-diol
4-{2-[3-(4-hydroxy-phenyl)-1-methyl-propylamino]-ethyl}-benzene-1,2-diol
52663-81-7 (hydrochloride)
74753-15-4
74753-15-4 (hydrobromide)
AC1L1WFF
AC1Q7AD1
BPBio1_000489
BRD-A78322124-003-03-3
BSPBio_000443
C06967
CHEBI:4670
CHEMBL926
CID36811
D03879
DB00841
DL-Dobutamine
DL-dobutamine
Dobutamin
Dobutamina
Dobutamina [INN-Spanish]
Dobutamine
Dobutamine (USP/INN)
Dobutamine Hcl
Dobutamine Hcl in Dextrose 5%
 
Dobutamine Hydrochloride
Dobutamine Tartrate (1:1), (S-(R*,R*))-Isomer
Dobutamine [USAN:BAN:INN]
Dobutamine [USAN]
Dobutamine [Usan:Ban:Inn]
Dobutamine [Usan]
Dobutamine hydrobromide
Dobutaminum
Dobutaminum [INN-Latin]
Dobutrex
EINECS 277-982-4
HMS2089K05
Inotrex
L001157
LS-174467
LY 81929
Lilly 81929
Lopac0_000365
NCGC00015321-05
NCGC00024629-02
NCGC00024629-03
Prestwick0_000352
Prestwick1_000352
Prestwick2_000352
Prestwick3_000352
Racemic-Dobutamine
Racemic-dobutamine
SPBio_002364
UNII-0WR771DJXV
UNII-3S12J47372
dobutamine
dobutamine(usp)
rac-Dobutamine
rac-dobutamine
racemic-Dobutamine
5Protective Agents7190
6Respiratory System Agents4818
7Vasodilator Agents3438
8Peripheral Nervous System Agents22776
9Neurotransmitter Agents17734
10Anti-Asthmatic Agents3369
11Endothelium-Dependent Relaxing Factors272
12Antioxidants2928
13Autonomic Agents9774
14Bronchodilator Agents2856
15Liver Extracts3868
16Kavanutraceutical1489000-38-8

Interventional clinical trials:

(show all 33)
idNameStatusNCT IDPhase
1Water Immersion in Right-Sided Heart Failure: A Pilot StudyCompletedNCT00654264Phase 4
2Ambrisentan in Single VentricleRecruitingNCT02080637Phase 2
3Clearing Lungs With ENaC Inhibition in Primary Ciliary DyskinesiaRecruitingNCT02871778Phase 2
4Chest Physiotherapy and Lung Function in Primary Ciliary DyskinesiaUnknown statusNCT01929356
5Early Detection and Characterization of Primary Ciliary DyskinesiaUnknown statusNCT01070914
6Screening for Primary Ciliary Dyskinesia Using Nasal Nitric OxideUnknown statusNCT00739817
7Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)Unknown statusNCT00686309
8Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
9MRI Study After Arterial Switch Operation in Patients With Transposition of the Great ArteriesCompletedNCT01916499
10Physical Training in Transposition of the Great ArteriesCompletedNCT00837603
11Evaluation of Monitoring TECHNOlogies in the PERI-OPerative Care of Cardiac Surgical PatientsCompletedNCT02658006
12Otolith Function in Patients With Primary Ciliary DyskinesiaCompletedNCT01246258
13Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary DyskinesiaCompletedNCT01155115
14Diagnosis of Primary Ciliary DyskinesiaCompletedNCT00783887
15Non-invasive Assessment of Liver Stiffness/Fibrosis by Transient Elastography (Fibroscan) in Patients With Left and/or Right Sided Heart FailureCompletedNCT00777725
16Genetic Study of Patients With Primary Ciliary DyskinesiaCompletedNCT00005650
17Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study DataCompletedNCT01929967
18Fibrosis, Valvular and Ventricular Function in Patients With TGARecruitingNCT02588989
19Cardiovascular MRI and Cardiopulmonary Exercise Capacity After Neonatal ASO) in Young AdultsRecruitingNCT02415491
20Molecular Genetics of Heterotaxy and Related Congenital Heart DefectsRecruitingNCT02432079
21Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart ValvesRecruitingNCT02119442
22Portal Flow Pulsatility as a Risk Factor for Acute Kidney Injury After Cardiac SurgeryRecruitingNCT02831907
23Open Lung Strategy in Critically Ill Morbid Obese PatientsRecruitingNCT02503241
24International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)RecruitingNCT02419365
25Genetics of Primary Ciliary DyskinesiaRecruitingNCT02389049
26Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung DiseaseRecruitingNCT00807482
27Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224
28NIOX VERO Nasal Application in Primary Ciliary DyskinesiaActive, not recruitingNCT02622061
29Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung DiseaseActive, not recruitingNCT00722878
30Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and AdolescentsActive, not recruitingNCT00450918
31Rare Genetic Disorders of the Breathing AirwaysActive, not recruitingNCT00323167
32Registry Study on Primary Ciliary Dyskinesia in Chinese ChildrenNot yet recruitingNCT02704455
33In Vivo Measurements of Nasal Ciliary Beat Frequency by Using InterferometryNot yet recruitingNCT02699177

Search NIH Clinical Center for Heterotaxy, Visceral, 5


Cochrane evidence based reviews: situs inversus

Genetic Tests for Heterotaxy, Visceral, 5

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Genetic tests related to Heterotaxy, Visceral, 5:

id Genetic test Affiliating Genes
1 Situs Inversus Viscerum27

Anatomical Context for Heterotaxy, Visceral, 5

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MalaCards organs/tissues related to Heterotaxy, Visceral, 5:

36
Lung, Heart, Liver, Spleen, Kidney

Publications for Heterotaxy, Visceral, 5

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Variations for Heterotaxy, Visceral, 5

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UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 5:

70
id Symbol AA change Variation ID SNP ID
1NODALp.Arg183GlnVAR_015111rs104894169
2NODALp.Glu203LysVAR_038194rs10999334
3NODALp.Gly260ArgVAR_062281rs121909283
4NODALp.Arg275CysVAR_062282rs781366461
5NODALp.Val284PheVAR_062283

Clinvar genetic disease variations for Heterotaxy, Visceral, 5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NODALNM_018055.4(NODAL): c.891+1G> ASNVLikely pathogenicrs878855044GRCh38Chr 10, 70435285: 70435285
2NODALNM_018055.4(NODAL): c.548G> A (p.Arg183Gln)SNVPathogenicrs104894169GRCh37Chr 10, 72195385: 72195385
3NODALNM_018055.4(NODAL): c.778G> A (p.Gly260Arg)SNVPathogenicrs121909283GRCh37Chr 10, 72195155: 72195155
4NODALNODAL, 9-BP INS/24-BP DEL, NT700indelPathogenicChr na, -1: -1
5NODALNODAL, IVS2DS, G-A, +1SNVPathogenicChr na, -1: -1

Expression for genes affiliated with Heterotaxy, Visceral, 5

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Search GEO for disease gene expression data for Heterotaxy, Visceral, 5.

Pathways for genes affiliated with Heterotaxy, Visceral, 5

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GO Terms for genes affiliated with Heterotaxy, Visceral, 5

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Cellular components related to Heterotaxy, Visceral, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemal dynein complexGO:000585810.6DNAH5, DNAI2
2dynein complexGO:003028610.2DNAH11, DNAL4
3outer dynein armGO:00361579.5DNAH5, DNAI1, DNAI2
4ciliumGO:00059299.4CCDC40, DNAI1, DNAL4, INVS, NPHP3
5cytoskeletonGO:00058569.0CCDC39, DNAI1, RSPH4A, RSPH9
6microtubuleGO:00058748.5DNAH11, DNAH5, DNAI1, DNAI2, DNAL4, INVS
7axonemeGO:00059307.9CCDC39, CCDC40, DNAAF1, DNAH5, DNAI2, RSPH4A
8cytoplasmGO:00057376.4CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1

Biological processes related to Heterotaxy, Visceral, 5 according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1epithelial cilium movementGO:000335110.5CCDC40, DNAI1
2axonemal dynein complex assemblyGO:00702869.9CCDC39, CCDC40, DNAAF1
3determination of digestive tract left/right asymmetryGO:00719079.9CCDC39, CCDC40, DNAAF1
4inner dynein arm assemblyGO:00361599.8CCDC39, CCDC40, DNAAF1
5axoneme assemblyGO:00350829.7RSPH4A, RSPH9
6heart developmentGO:00075079.5CCDC39, DNAH11, DNAH5, DNAI1, NODAL
7determination of liver left/right asymmetryGO:00719109.4CCDC39, CCDC40, DNAAF1, NPHP3
8determination of pancreatic left/right asymmetryGO:00354699.4CCDC39, CCDC40, DNAAF1, NPHP3
9epithelial cilium movement involved in determination of left/right asymmetryGO:00602879.4CCDC39, CCDC40, DNAAF1, NPHP3
10outer dynein arm assemblyGO:00361589.2DNAAF1, DNAH5, DNAI1, DNAI2
11heart loopingGO:00019479.1CCDC39, CCDC40, DNAAF1, NODAL, NPHP3
12lung developmentGO:00303249.0CCDC39, CCDC40, DNAAF1, NODAL, NPHP3
13sperm motilityGO:00977228.8CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
14regulation of cilium beat frequencyGO:00033568.8CCDC39, CCDC40, DNAAF1, DNAH11
15motile cilium assemblyGO:00444588.8CCDC39, CCDC40, DNAAF1, RSPH9
16determination of left/right symmetryGO:00073688.7CCDC39, DNAH11, DNAH5, DNAI1, DNAI2, NODAL
17cilium movementGO:00033417.1CCDC39, CCDC40, DNAAF1, DNAH11, DNAH5, DNAI1

Molecular functions related to Heterotaxy, Visceral, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:00037778.9DNAH11, DNAH5, DNAI2, DNAL4

Sources for Heterotaxy, Visceral, 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet