Genopathy
Gene-Disorder Association · Article
Gene
KDM1A
Lysine Demethylase 1A
Disorder
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
First reported 2014
Supporting publications 2
Key publication · gene–disorder De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.American journal of medical genetics. Part A · 2014
Key publication · disorder Trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).Annales de genetique · 1975
Manually curated
Association Review

In brief

The association between KDM1A (Lysine Demethylase 1A) and Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 27
Symptoms 64
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.

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02
Provenance

Evidence and sources

3 sources

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

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03
KDM1A

The gene

2 source summaries

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

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04
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features

The disorder

5 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

39 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

27 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

2 publications

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

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09
Provenance

References & sources

8 references

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

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