Genopathy
Gene-Disorder Association · Article
Gene
ATP1A1
ATPase Na+/K+ Transporting Subunit Alpha 1
Disorder
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
First reported 2002
Supporting publications 2
Key publication · disorder Familial association of pseudohypoparathyroidism and psoriasis: case report.Sao Paulo medical journal = Revista paulista de medicina · 2002
Manually curated
Association Review

In brief

The association between ATP1A1 (ATPase Na+/K+ Transporting Subunit Alpha 1) and Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 32
Symptoms 27
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.

Request access
02
Provenance

Evidence and sources

5 sources

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

Request access
03
ATP1A1

The gene

2 source summaries

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

Request access
04
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2

The disorder

12 database identifiers

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

Request access
05
Phenotype

Clinical features

18 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

32 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

2 publications

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

Request access
09
Provenance

References & sources

11 references

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

Request access