Genopathy
Gene-Disorder Association · Article
Gene
TBC1D30
TBC1 Domain Family Member 30
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 TBC1D30 (TBC1 Domain Family Member 30) 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.

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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
TBC1D30

The gene

1 source summary

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

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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).

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05
Phenotype

Clinical features

32 clinical features

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

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06
Provenance

References & sources

5 references

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

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