Genopathy
Gene-Disorder Association · Article
Gene
HNF1B
HNF1 Homeobox B
Disorder
Renal Hypodysplasia/Aplasia 1
First reported 2001
Supporting publications 2
Key publication · gene–disorder Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.Diabetologia · 2001
Key publication · disorder Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns.Lancet (London, England) · 1950
Manually curated
Association Review

In brief

The association between HNF1B (HNF1 Homeobox B) and Renal Hypodysplasia/Aplasia 1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 61
Compounds 0
Trials 0
Publications 2
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
HNF1B

The gene

1 source summary

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

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04
Renal Hypodysplasia/Aplasia 1

The disorder

20 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

48 clinical features

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

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Literature

Reading

2 publications

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

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08
Provenance

References & sources

8 references

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

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