Genopathy
Gene-Disorder Association · Article
Gene
HERC1
HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1
Disorder
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
First reported 2020
Supporting publications 4
Key publication · gene–disorder A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.Molecular genetics and metabolism · 2020
Key publication · disorder [Mannosidosis type II].Revue neurologique · 1991
Manually curated
Association Review

In brief

The association between HERC1 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1) and Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 72
Symptoms 69
Compounds 0
Trials 0
Publications 4
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

4 sources

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

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03
HERC1

The gene

1 source summary

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

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04
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation

The disorder

7 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

41 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

72 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

4 publications

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

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09
Provenance

References & sources

10 references

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

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