HTX9
MCID: HTR026
MIFTS: 20

Heterotaxy, Visceral, 9, Autosomal, with Male Infertility (HTX9)

Categories: Genetic diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

MalaCards integrated aliases for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility:

Name: Heterotaxy, Visceral, 9, Autosomal, with Male Infertility 57 72 6
Htx9 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset at birth
some patients may be asymptomatic
laterality defects occur randomly


HPO:

31
heterotaxy, visceral, 9, autosomal, with male infertility:
Inheritance autosomal recessive inheritance
Onset and clinical course antenatal onset


Classifications:



External Ids:

OMIM® 57 618948
OMIM Phenotypic Series 57 PS306955
MeSH 44 D059446

Summaries for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

OMIM® : 57 Visceral heterotaxy-9 (HTX9) is an autosomal recessive disorder characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia. Affected males are infertile mainly due to defective sperm motility, whereas affected females do not appear to have fertility problems. The disorder results from impaired function of the embryonic nodal cilia and sperm flagella. However, patients do not have classic respiratory symptoms of primary ciliary dyskinesia (see, e.g., CILD; 244400). The phenotype is highly variable; some affected individuals may be identified incidentally (summary by Ta-Shma et al., 2018 and Leslie et al., 2020). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (618948) (Updated 05-Apr-2021)

MalaCards based summary : Heterotaxy, Visceral, 9, Autosomal, with Male Infertility, also known as htx9, is related to male infertility. An important gene associated with Heterotaxy, Visceral, 9, Autosomal, with Male Infertility is MNS1 (Meiosis Specific Nuclear Structural 1). Affiliated tissues include spleen and heart, and related phenotypes are recurrent otitis media and dextrocardia

UniProtKB/Swiss-Prot : 72 Heterotaxy, visceral, 9, autosomal, with male infertility: 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 be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility.

Related Diseases for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

Diseases related to Heterotaxy, Visceral, 9, Autosomal, with Male Infertility via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 male infertility 9.5 TEX9 MNS1

Symptoms & Phenotypes for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

Human phenotypes related to Heterotaxy, Visceral, 9, Autosomal, with Male Infertility:

31
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 very rare (1%) HP:0000403
2 dextrocardia 31 very rare (1%) HP:0001651
3 situs inversus totalis 31 very rare (1%) HP:0001696
4 asplenia 31 very rare (1%) HP:0001746
5 male infertility 31 very rare (1%) HP:0003251

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
male infertility
abnormal sperm morphology
short tail on sperm
impaired progressive motility of sperm

Abdomen:
situs inversus (in some patients)
heterotaxy (in some patients)

Respiratory:
no significant respiratory symptoms

Cardiovascular Heart:
congenital heart defects (in some patients)
dextrocardia (in some patients)

Head And Neck Ears:
otitis media (in some patients)

Abdomen Spleen:
asplenia (1 patient)

Clinical features from OMIM®:

618948 (Updated 05-Apr-2021)

Drugs & Therapeutics for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

Genetic Tests for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

Anatomical Context for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

MalaCards organs/tissues related to Heterotaxy, Visceral, 9, Autosomal, with Male Infertility:

40
Spleen, Heart

Publications for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

Articles related to Heterotaxy, Visceral, 9, Autosomal, with Male Infertility:

# Title Authors PMID Year
1
MNS1 variant associated with situs inversus and male infertility. 6 57
31534215 2020
2
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. 57 6
30148830 2018

Variations for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

ClinVar genetic disease variations for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MNS1 , TEX9 NM_018365.4(MNS1):c.724C>T (p.Arg242Ter) SNV Pathogenic 973691 rs185005213 GRCh37: 15:56736015-56736015
GRCh38: 15:56443817-56443817
2 MNS1 NM_018365.4(MNS1):c.407_410del (p.Glu136fs) Microsatellite Pathogenic 635005 rs1596264554 GRCh37: 15:56739085-56739088
GRCh38: 15:56446887-56446890

Expression for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

Search GEO for disease gene expression data for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility.

Pathways for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

GO Terms for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

Sources for Heterotaxy, Visceral, 9, Autosomal, with Male Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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