Genopathy
Gene-Disorder Association · Article
Gene
CDKN1C
Cyclin Dependent Kinase Inhibitor 1C
Disorder
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
First reported 2005
Supporting publications 4
Key publication · gene–disorder Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.The Journal of clinical endocrinology and metabolism · 2005
Key publication · disorder [Direct image and crossed image localizations in the peripheral visual field; clinical studies of several systems of cerebral reflexes].Folia psychiatrica, neurologica et neurochirurgica Neerlandica · 1950
Manually curated
Association Review

In brief

The association between CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) and Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 120
Symptoms 36
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.

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
CDKN1C

The gene

1 source summary

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

Request access
04
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

The disorder

14 database identifiers

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

Request access
05
Phenotype

Clinical features

26 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

120 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

4 publications

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

Request access
09
Provenance

References & sources

12 references

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

Request access