Heterotaxy, visceral, 10, autosomal, with male infertility(HTX10)

MedGen UID:: 1794282
•Concept ID:: C5562072
•: Disease or Syndrome

Synonyms:	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10

Gene (location): Gene(s) directly associated with this condition or phenotype.	CFAP52 (17p13.1)

Monarch Initiative:	MONDO:0030474
OMIM®:	619607

Definition

Visceral heterotaxy-10 (HTX10) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility has been reported (Ta-Shma et al., 2015; Dougherty et al., 2020). For a discussion of 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.

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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.

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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.

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Abdominal situs inversus

MedGen UID:: 52359
•Concept ID:: C0037221
•: Congenital Abnormality

A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.

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Cough

MedGen UID:: 41325
•Concept ID:: C0010200
•: Sign or Symptom

A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.

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Decreased nasal nitric oxide

MedGen UID:: 767344
•Concept ID:: C3554430
•: Finding

Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.

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Chronic sinusitis