Genopathy
Gene-Disorder Association · Article
Gene
MFF-DT
MFF Divergent Transcript
Disorder
Alport Syndrome 2, Autosomal Recessive
First reported 1994
Supporting publications 62
Key publication · gene–disorder Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.Nature genetics · 1994
Key publication · disorder [Hereditary nephritis with bearing loss of the receiver type (Alport's syndrome) with a description of 2 cases].Vutreshni bolesti · 1974
Manually curated
Association Review

In brief

The association between MFF-DT (MFF Divergent Transcript) and Alport Syndrome 2, Autosomal Recessive is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 417
Symptoms 20
Compounds 0
Trials 0
Publications 62
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
MFF-DT

The gene

A gene summary alongside the source descriptions it was distilled from.

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04
Alport Syndrome 2, Autosomal Recessive

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

14 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

417 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Literature

Reading

62 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

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