How is Alport syndrome 3b, autosomal recessive inherited?

Alport syndrome 3b, autosomal recessive follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How is Alport syndrome 3b, autosomal recessive diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Alport syndrome 3b, autosomal recessive?

Information about treatment options is currently limited for this condition.

What complications can arise from Alport syndrome 3b, autosomal recessive?

Information about specific complications from Alport syndrome 3b, autosomal recessive is currently limited. However, since this condition affects kidney function, it may lead to kidney problems over time. It's important to monitor kidney health regularly with your doctor.

How might Alport syndrome 3b, autosomal recessive affect daily life?

Daily life impacts from Alport syndrome 3b, autosomal recessive can vary since information about symptoms is limited. Patients may need to manage kidney health and possibly adjust their activities based on how they feel. Regular check-ups with healthcare providers can help in managing daily life.

What is the prognosis for someone with Alport syndrome 3b, autosomal recessive?

The overall prognosis for Alport syndrome 3b, autosomal recessive is not well defined, as information is currently limited. Ongoing medical research is trying to clarify the long-term outlook for individuals with this condition. It's important to stay in touch with healthcare providers for the best care.

Are there any specialists that should be involved in the care of someone with Alport syndrome 3b, autosomal recessive?

While specific recommendations for specialists are not detailed, it is generally helpful for patients with Alport syndrome 3b, autosomal recessive to see a nephrologist, who specializes in kidney health. Regular consultations with genetic counselors may also be beneficial for understanding the condition better.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Alport syndrome 3b, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Alport syndrome 3b, autosomal recessive

MONDO:0957811

Overview

GeneticsAutosomal recessive · COL4A3 (chr 2)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Reduced kidney function (renal insufficiency), Protein in the urine (proteinuria), and Microscopic hematuria; and common findings: Stage 5 chronic kidney disease. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	6	Stage 5 chronic kidney disease, Nephrotic syndrome, Reduced kidney function (renal insufficiency)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COL4A3 encodes collagen type IV alpha 3 chain (1,670 aa). Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen Highest expression in Thyroid (42.6 TPM) and Pituitary (29.7 TPM).

Alport syndrome 3b, autosomal recessive is associated with mutations in the COL4A3 gene on chromosome 2.

COL4A3 is classified as a druggable target (Druggable Genome and Kinase categories) with score 0.9.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Diagnostic criteria for Alport syndrome have been published .

Suggestive Findings

Molecular genetic testing for Alport syndrome should be considered in an individual with persistent glomerular hematuria, plus one or more of the following clinical findings, family history, pathology, or other findings .

Clinical findings

Sensorineural deafness

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Alport syndrome 3b, autosomal recessive. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Alport syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Alport Syndrome: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Clinical practice recommendations for health surveillance of individuals with Alport syndrome have been published . These recommendations encourage early detection of microalbuminuria and proteinuria through regular surveillance. Table 7. Alport Syndrome: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Alport syndrome 3b, autosomal recessive.

5 publications have been identified in PubMed for Alport syndrome 3b, autosomal recessive. Research spans Diagnostic / Biomarker (20%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Song ZR (2026). [PMID: 41767691](https://pubmed.ncbi.nlm.nih.gov/41767691/). *Kidney Med*. [Epidemiology / Natural History]
Chen D (2025). [PMID: 39924725](https://pubmed.ncbi.nlm.nih.gov/39924725/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]
Wang D (2025). [PMID: 40406358](https://pubmed.ncbi.nlm.nih.gov/40406358/). *Front Pediatr*. [Case Report / Case Series]
Mitrofanova A (2025). [PMID: 40451505](https://pubmed.ncbi.nlm.nih.gov/40451505/). *Kidney Int*. [Basic Science / Preclinical]
Ng NSL (2025). [PMID: 39349776](https://pubmed.ncbi.nlm.nih.gov/39349776/). *Pediatr Nephrol*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620536

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Alport syndrome 3b, autosomal recessive

Alport syndrome 3b, autosomal recessive is a rare condition that involves genetic changes affecting kidney function and other organs. This condition is linked to changes in a specific gene known as COL4A3, which plays an important role in the structure of certain body tissues. Information about the overall picture of this condition is currently limited. Further details on the complete clinical picture and natural history of this condition are still being clarified in medical research.

Information about symptoms is currently limited for this condition.

The condition is caused by genetic changes and follows an autosomal recessive pattern. It is associated with variants in the COL4A3 gene. The information provided from OMIM (OMIM:620536) supports its genetic basis. Associated genes include COL4A3.

← Back to All Diseases

GeneReviews

Clinical Guidance

Alport syndrome is characterized by kidney manifestations (ranging from isolated hematuria to progressive kidney disease), sensorineural hearing loss (SNHL), and ocular manifestations. Kidney insufficiency and SNHL may not develop until relatively late in life. Table 2. Alport Syndrome: Frequency of Select Features Feature | % of Persons w/Feature

XLAS	ARAS	ADAS
Hematuria	100%	90%
Proteinuria	100%	70%
ESKD2	~80%(by age 40 yrs)	~20%(by age 60 yrs)
SNHL	~50%-60%3	Rare
Anterior lenticonus5	50%	5%
Central or perimacular fleck retinopathy5	70%	20%

Source: GeneReviews — "Alport Syndrome"

GeneReviews

Differential Diagnosis

Alport syndrome must be distinguished from other genetic disorders associated with persistent (6 months in duration) hematuria and/or combined nephritis and hearing loss . Of note, in a child with no known family history of hematuria, the most likely diagnoses are immunoglobin A nephropathy, Alport syndrome, and C3 glomerulopathy. Table 4. Genetic Disorders of Interest in the Differential Diagnosis of Alport Syndrome

Gene	Disorder	MOI	Features of Disorder
C3 glomerulopathy	Rarely inherited in a simple mendelian fashion1	Hematuria; Proteinuria	Hypocomplementemia EYA1
SIX1	Branchiootorenal (BOR) syndrome (See Branchiootorenal Spectrum Disorder.)2	AD	Hearing loss; Kidney failure; FSGS; Cataracts
LAMA5	FSGS (OMIM 620049)	ARAD3	Lamellated GBM FSGS; Kidney failure
LAMB2	Pierson syndrome/ FSGS w/o ocular abnormalities (OMIM 614199, 609049)	AR	Lamellated GBM FSGS; Kidney failure; Ocular changes
Nail-patella syndrome	AD	Lamellated GBM FSGS; Kidney failure	Nail dysplasia; Patellar hypoplasia
MYH9	MYH9-related disease4	AD	Combined nephritis hearing loss; Some persons exhibit ultrastructural changes of glomerular capillary wall reminiscent of those seen in persons w/Alport syndrome.

Source: GeneReviews — "Alport Syndrome"

Latest News & Developments

1 recent

View all

AI-curated news mentioning Alport syndrome 3b, autosomal recessive

Updated Aug 25, 2026

Gene & Cell Therapy•

Pipeline & Approvals

•26 days ago(Aug 25)

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor

The FDA approved Genglycos (pariglasgene brecaparvovec-opnr) to reduce daily cornstarch intake in patients aged 8 years and older with glycogen storage disease type Ia. Known as Von Gierke disease, GSDIa is a rare metabolic disorder caused by a mutation in the G6PC gene. This genetic variation leads to a deficiency in glucose-6-phosphatase (G6Pase), an enzyme needed to release glucose into the bloodstream. Without this enzyme, the body cannot properly maintain blood glucose levels, causing severe hypoglycemia and other serious metabolic complications · Pariglasgene brecaparvovec is an adeno-associated virus (AAV) serotype 8 based gene therapy that delivers a functional copy of the G6PC gene into liver cells, enabling the production of normally functioning G6Pase. Ultragenyx stated that as part of its postmarketing commitments to the FDA, the Company will provide 2 years of clinical data from open-label commercial treatment of 50 patients and 20 control patients through its existing GSDIa Disease Monitoring Program. ... Ultragenyx announces US FDA approval of Genglycos™ gene therapy, the first-ever FDA-approved treatment designed to treat the underlying cause of glycogen storage disease type Ia (GSDIa). “The reduced reliance on cornstarch, experienced by patients in our clinical studies, demonstrates this gene therapy’s ability to establish the normal breakdown of glycogen to produce glucose during fasting or episodes of metabolic stress. This ability to regulate glucose has alleviated the disease burden and has the potential to mitigate the risk of severe or life-threatening hypoglycemia for these patients.” Close more info about First Gene Therapy Approved for Glycogen Storage Disease Type la

View all news for Alport syndrome 3b, autosomal recessive

Kisho

Alport syndrome 3b, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor

Alport syndrome 3b, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Alport syndrome 3b, autosomal recessive?

What are the symptoms of Alport syndrome 3b, autosomal recessive?

What causes Alport syndrome 3b, autosomal recessive?

How is Alport syndrome 3b, autosomal recessive inherited?

How is Alport syndrome 3b, autosomal recessive diagnosed?

Are there treatments for Alport syndrome 3b, autosomal recessive?

What complications can arise from Alport syndrome 3b, autosomal recessive?

How might Alport syndrome 3b, autosomal recessive affect daily life?

What is the prognosis for someone with Alport syndrome 3b, autosomal recessive?

Are there any specialists that should be involved in the care of someone with Alport syndrome 3b, autosomal recessive?

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor