Alport Syndrome, X-linked; Ats

Description

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

Clinical Features

Top most frequent phenotypes and symptoms related to Alport Syndrome, X-linked; Ats

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension
  • Myopia
  • Fatigue
  • Dysphagia
  • Edema
  • Vomiting

And another 45 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available ALPORT SYNDROME, X-LINKED; ATS have a estimated prevalence of 2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Alport Syndrome, X-linked; Ats Is also known as nephropathy and deafness, x-linked.

Researches and researchers

Doctors, researchs, and experts related to Alport Syndrome, X-linked; Ats extracted from public data.

Alport Syndrome, X-linked; Ats Experts map



Current Researchs and researchers

  • GÖTTINGEN — Pr Oliver GROSS

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Contact person of registry

    • Institution/s:
      — Universitätsmedizin Göttingen
      — Universitätsmedizin Göttingen
    • Research area/topic::

      Role of the interaction of slit membrane, podocyte and glomerular basement membrane in pathogenesis of glomerular kidney diseases such as Alport's syndrome


  • PORTO — Dr Maria João SÁ

    Investigator of research project

    • Institution/s:
      — Faculdade de Medicina da Universidade do Porto
    • Research area/topic::

      Alport Syndrome: Clinical and molecular study of Portuguese families



Mendelian

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Alport Syndrome, X-linked; Ats Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COL4A5 Sequencing and Deletion Analysis.

By Athena Diagnostics Inc (United States).

COL4A5
Specificity
100 %
Genes
100 %
Complete Alport Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

COL4A3, COL4A4, COL4A5
Specificity
34 %
Genes
100 %
COL4A5 Deletion Analysis.

By Athena Diagnostics Inc (United States).

COL4A5
Specificity
100 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Alport syndrome panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

COL4A3, COL4A4, COL4A5
Specificity
34 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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