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Diseases » Alport Syndrome » Summary

What is Alport Syndrome?

What is Alport Syndrome?

  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alport Syndrome: A genetically heterogenous disorder characterized by kidney abnormalities with hematuria and proteinuria, sensorineural hearing loss, and eye abnormalities. Two main genetically distinct forms are recognized: An X-linked dominant form (MIM 301050) with additional features including mental retardation, dysmorphic facies with midfacial hypoplasia, elliptocytosis and smooth muscle tumors; and an autosomal recessive form (OMIM 203780). Variants of Alport syndrome without mental retardation include: Alport syndrome with leukocyte inclusions and macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Fechtner syndrome (named after a patient) Sebastian platelet syndrome (named after a patient) macrothrombocytopathy-deafness-nephritis-leukocyte inclusions syndrome (OMIM 153640) Alport syndrome with macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Epstein syndrome hereditary macrothrombocytopathia-nephritis-deafness syndrome macrothrombocytopathy-nephritis-deafness syndrome thrombocytopenia-macrothrombocytopathia-nephritis-defames syndrome (OMIM 153650) hereditary nephropathy-deafness syndrome (transmitted as an autosomal dominant trait) Synonym: hereditary nephropathy-sensorineural hearing loss syndrome (OMIM 104200) Alport syndrome with abnormal collagen of basement membrane (transmitted as an X-linked trait) (OMIM 303630)
    Source - Diseases Database

Alport Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Alport Syndrome, or a subtype of Alport Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Alport Syndrome as a "rare disease".
Source - Orphanet

Alport Syndrome: Introduction

Types of Alport Syndrome:

Broader types of Alport Syndrome:

How many people get Alport Syndrome?

Prevalance of Alport Syndrome: 1 per 50,000 newborns suffer from Alport syndrome, Genetics Home Reference website
Prevalance Rate of Alport Syndrome: approx 1 in 50,000 or 0.00% or 5,440 people in USA [about data]

How serious is Alport Syndrome?

Complications of Alport Syndrome: see complications of Alport Syndrome

What causes Alport Syndrome?

Causes of Alport Syndrome: see causes of Alport Syndrome

What are the symptoms of Alport Syndrome?

Symptoms of Alport Syndrome: see symptoms of Alport Syndrome

Complications of Alport Syndrome: see complications of Alport Syndrome

Can anyone else get Alport Syndrome?

More information: see contagiousness of Alport Syndrome
Inheritance: see inheritance of Alport Syndrome

Alport Syndrome: Testing

Diagnostic testing: see tests for Alport Syndrome.

Misdiagnosis: see misdiagnosis and Alport Syndrome.

How is it treated?

Treatments for Alport Syndrome: see treatments for Alport Syndrome
Research for Alport Syndrome: see research for Alport Syndrome

Name and Aliases of Alport Syndrome

Main name of condition: Alport Syndrome

Other names or spellings for Alport Syndrome:

hematuria-nephropathy deafness, hereditary deafness and nephropathy, nephritis and nerve deafness, hereditary, nephropathy and deafness, hereditary, Alport syndrome, X-linked, Nephropathy and deafness, Hemorrhagic hereditary nephritis, Congenital hereditary hematuria, Hemorrhagic familial nephritis

Alport syndrome, X linked, Congenital hereditary hematuria, Hemorrhagic familial nephritis, Hemorrhagic hereditary nephritis, Nephropathy and deafness
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Alport Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Alport Syndrome:


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