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Heterotaxy, visceral, 9, autosomal, with male infertility(HTX9)

MedGen UID:
1717772
Concept ID:
C5394551
Disease or Syndrome
Synonyms: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
 
Gene (location): MNS1 (15q21.3)
 
Monarch Initiative: MONDO:0030070
OMIM®: 618948

Definition

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). [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Situs inversus
MedGen UID:
1642262
Concept ID:
C4551493
Congenital Abnormality
A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Asplenia
MedGen UID:
1830315
Concept ID:
C5779621
Anatomical Abnormality
Absence (aplasia) of the spleen.

Recent clinical studies

Diagnosis

Morillas HN, Zariwala M, Knowles MR
Respiration 2007;74(3):252-63. doi: 10.1159/000101783. PMID: 17534128

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