NDE1 and Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

NDE1

NudE Neurodevelopment Protein 1

Disorder

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2

First reported 1991

Key publication · disorder Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.American journal of medical genetics · 1991

Association Review

In brief

The association between NDE1 (NudE Neurodevelopment Protein 1) and Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1

Clinical variants 67

Symptoms 33

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.

02

Provenance

Evidence and sources

1 source

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

03

NDE1

The gene

1 source summary

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

04

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2

The disorder

6 database identifiers

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

05

Phenotype

Clinical features

21 clinical features

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

06

ClinVar and variant evidence

Genetic basis

67 clinical variants

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

07

Provenance

References & sources

4 references

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