Genopathy
Gene-Disorder Association · Article
Gene
ERBB4
Erb-B2 Receptor Tyrosine Kinase 4
Disorder
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
First reported 1986
Key publication · disorder [Changes in food/nutrient intake and cancer mortality in Japan].Gan no rinsho. Japan journal of cancer clinics · 1986
Manually curated
Association Review

In brief

The association between ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4) and Alacrima, Achalasia, And Impaired Intellectual Development Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 51
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
ERBB4

The gene

3 source summaries

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

Request access
04
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

32 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

7 references

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

Request access