Alport Syndrome, X-Linked

Alternative Names

  • ATS
  • Nephropathy and Deafness
  • Alport Syndrome-Like Hereditary Nephritis
  • ASLHN
  • ASLN
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

301050

Mode of Inheritance

X-linked

Gene Map Locus

Xq22.3

Description

Alport Syndrome is  a disorder of defective collagen, leading to abnormalities in the functioning of the kidneys, ears, and eyes. Hearing loss is seen in 80% of boys with ATS. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
301050.1LebanonMaleNoYes Microscopic hematuria; Hydronephrosis; ...NM_033380.2:c.4214dupHemizygousX-linked, DominantErmisch et al, 2000

Other Reports

Tunisia

Hentati et al. (2008) described the incidence and type of ocular abnormalities in 32 patients with Alport's syndrome. The patients belonged to 10 unrelated families in South Tunisia. Genetic survey found five of these families were affected by the X-linked Alport syndrome.

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